IthaGenes

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Showing all Disease modifying mutations (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3523	rs7138216	N/A	NC_000012.12:g.4225142G>C	RPL18P9-CCND2-AS1	Modifier	Abnormal red blood cell count
2680	rs270387	N/A	NC_000006.12:g.7772759A>G	BMP6	Modifier	Bacteremia		0
2681	rs267188	N/A	NC_000006.12:g.7840548T>A	BMP6	Modifier	Bacteremia		0
2682	rs408505	N/A	NC_000006.12:g.7866194T>C	BMP6	Modifier	Stroke, Bacteremia		0
2683	rs449853	N/A	NC_000006.12:g.7872119C>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Bacteremia		0
2915	-840 G>A (rs7438135)	N/A	NC_000004.12:g.69095621G>A	UGT2B7	Modifier	Morphine glucuronidation		0
3108	rs7118086	N/A	NC_000011.10:g.5316981T>C	OR51B2	Modifier	Hb F levels		0
3109	rs6578603	N/A	NC_000011.10:g.5321174C>T	OR51B2	Modifier	Hb F levels		0
3110	rs11036815	N/A	NC_000011.10:g.5323451G>A	OR51B2	Modifier	Hb F levels		0
3111	rs6578605	N/A	NC_000011.10:g.5328374A>G	OR51B2	Modifier	Hb F levels		0
3190	rs12793110	N/A	NC_000011.10:g.5210335C>T	OR51V1-HBB	Modifier	Anaemia		0
3346	rs7198458	N/A	NC_000016.10:g.66924983T>G	RRAD	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3350	rs13291830	N/A	NC_000009.12:g.137383374C>T	EXD3	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3353	rs28376707	N/A	NC_000008.11:g.76851837C>T	ZFHX4	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3354	rs35495590	N/A	NC_000007.14:g.23689312T>C	FAM221A	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3356	rs12366219	N/A	NC_000011.10:g.124023412A>G	OR10G9	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3357	rs17160348	N/A	NC_000019.10:g.8261982C>A \| NC_000019.10:g.8261982C>G \| NC_000019.10:g.8261982C>T	CERS4	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3465	rs2445284	N/A	NC_000011.10:g.5008473C>T	OR51L1-OR51P1P	Modifier	Haemolytic anaemia		0
3470	rs6778854	N/A	NC_000003.12:g.546765A>G	CHL1-LINC01266	Modifier	Acute chest syndrome		0
3481	rs540006	N/A	NG_029975.1:g.2726A>G	TGFA-ADD2	Modifier	Pain		0
3492	rs17084406	N/A	NC_000004.12:g.54496017A>G	PDGFRA-KIT	Modifier	Abnormal red blood cell count		0
3524	rs16887645	N/A	NC_000008.11:g.115685828C>A	TRPS1-LINC00536	Modifier	Abnormal red blood cell count		0
3191	rs11036338	N/A	NG_000007.3:g.76148C>G	OR51V1-HBB	Modifier	Anaemia		76148
2561	ααα(anti-3.7) (Triplicated α (anti-3.7))	N/A	NG_000006.1:g.34247_38050dup	α2, α1	Modifier	α-thalassaemia, Anaemia	NG_000006.1
2567	BS duplication	N/A	NC_000016.10:g.(85585_100579)_ (360915_410354)dup	HS40, ζ, α2, α1	Modifier	α-thalassaemia	NG_000006.1
2568	FD duplication	N/A	NC_000016.10:g.55826_(185840_187594)dup	HS40, ζ, α2, α1	Modifier	α-thalassaemia	NG_000006.1
2569	ααα(anti-4.2) (Triplicated α (anti-4.2))	N/A	NG_000006.1:g.(31957_31978)_(34525_34544)dup	α2	Modifier	Anaemia	NG_000006.1
2570	Sardinian duplication	N/A	N/A	HS40, ζ, α2, α1	Modifier	α-thalassaemia	NG_000006.1
3070	αααα282 (αααα222)	N/A	NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200]	HS40, ζ, α2, α1, NPRL3	Modifier	α-chain variant	NG_000006.1
3076	αααα391	N/A	NC_000016.10:g.101440_492029dup	HS40, ζ, α2, α1, NPRL3	Modifier	α-chain variant	NG_000006.1
3265	α-globin cluster triplication	N/A	NC_000016.10:g.(53322_113530)_(181203_206337)dup	HS40, ζ, α2, α1, HBM	Modifier	α-thalassaemia	NG_000006.1
3937	188.7 kb dup	N/A	NC_000016.10:g.62166_250991del	HS40, ζ, α2, α1, NPRL3, HBM	Modifier	N/A	NG_000006.1
3938	120.5 kb dup	N/A	NC_000016.10:g.98546_219042del	HS40, ζ, α2, α1, NPRL3, HBM	Modifier	N/A	NG_000006.1
3939	~274 kb dup	N/A	N/A	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Modifier	N/A	NG_000006.1
3948	-α3.7αα (α triplication)	N/A	N/A	α2, α1, α3.7 hybrid	Modifier	α-thalassaemia	NG_000006.1
4010	αααα(anti-3.7)	N/A	N/A	α2, α1	Modifier	α-thalassaemia	NG_000006.1
4014	αααα(159)	N/A	NC_000016.10:g.(63142_63147)_(222524_222529)dup	ζ, α2, α1, NPRL3, HBM	Modifier	α-thalassaemia	NG_000006.1
4101	αααα(165)	N/A	NC_000016.10:g.59867_224557dup	HS40, ζ, α2, α1, NPRL3, HBM	Modifier	N/A	NG_000006.1
3192	rs141494605	N/A	NG_000006.1:g.27457T>C	HBM	Modifier	Anaemia	NG_000006.1	27457
3826	rs6578598	N/A	NC_000011.10:g.5297978A>G	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3
3828	rs449937	N/A	NC_000011.10:g.5469115G>A	OR51B5	Modifier	Severity	NG_000007.3
3881	rs3759071	N/A	NC_000011.10:g.5270302G>A \| NC_000011.10:g.5270302G>T	ε	Modifier	Hb F levels	NG_000007.3
3882	rs3813726	N/A	NC_000011.10:g.5234759T>A \| NC_000011.10:g.5234759T>C	δ	Modifier	Hb F levels	NG_000007.3
3825	rs3888708	N/A	NG_000007.3:g.466G>T	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3	466
3824	rs7933082	N/A	NG_000007.3:g.2115C>G	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3	2115
3107	rs4601817	N/A	NG_000007.3:g.6445T>C	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	6445
2812	rs11036639	N/A	NG_000007.3:g.8340T>G	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	8340
2950	rs16912979	N/A	NG_000007.3:g.9151A>G	βLCR	Modifier	Hb F levels	NG_000007.3	9151
3106	rs11036634	N/A	NG_000007.3:g.10118G>A	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	10118
2792	rs4910742	N/A	NG_000007.3:g.12337C>T	βLCR	Modifier	Hb F levels, Abnormal red blood cell count	NG_000007.3	12337
3260	rs7119428	N/A	NG_000007.3:g.16766T>G	βLCR	Modifier	Hb F levels	NG_000007.3	16766
3261	rs9736333	N/A	NG_000007.3:g.16784A>G	βLCR	Modifier	Hb F levels	NG_000007.3	16784
2718	rs7130110	N/A	NG_000007.3:g.22742C>G	ε	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_000007.3	22742
2813	rs11036562	N/A	NG_000007.3:g.24701G>T	ε	Modifier	Hb F levels, Severity	NG_000007.3	24701
3820	rs3759069	N/A	NG_000007.3:g.27016T>A	ε	Modifier	Severity	NG_000007.3	27016
2727	rs3759070	N/A	NG_000007.3:g.27218G>C	ε	Modifier	Hb F levels, Severity	NG_000007.3	27218
3185	rs67385638	N/A	NG_000007.3:g.28476G>C	ε	Modifier	Hb F levels	NG_000007.3	28476
3880	rs72872549	N/A	NC_000011.10:g.5268823C>T	ε	Modifier	Hb F levels	NG_000007.3	28793
2824	rs4910740	N/A	NG_000007.3:g.31556C>T	HBG2-HBE1	Modifier	Hb F levels, Severity	NG_000007.3	31556
2814	rs10837707	N/A	NG_000007.3:g.32038A>G	HBG2-HBE1	Modifier	Hb F levels, Severity	NG_000007.3	32038
3417	rs4348933 (rs11036509)	N/A	NG_000007.3:g.33868T>C \| NG_000007.3:g.33868T>G	HBG2-HBE1	Modifier	Hb F levels	NG_000007.3	33868
3819	rs7480802	N/A	NG_000007.3:g.36338A>G	HBG2-HBE1	Modifier	Severity	NG_000007.3	36338
3818	rs10160820	N/A	NG_000007.3:g.36389T>G	HBG2-HBE1	Modifier	Severity	NG_000007.3	36389
2825	rs10128653	N/A	NG_000007.3:g.41385T>G	Gγ	Modifier	Hb F levels	NG_000007.3	41385
3411	rs2855121	N/A	NG_000007.3:g.41555G>A	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	41555
2826	rs2855122	N/A	NG_000007.3:g.41610G>A	Gγ	Modifier	Hb F levels	NG_000007.3	41610
2874	rs2855123	N/A	NG_000007.3:g.41768T>A	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	41768
3816	rs2011051	N/A	NG_000007.3:g.42028C>A	Gγ	Modifier	Severity	NG_000007.3	42028
2127	-158 C>T (XmnI, rs7482144)	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia, Severity	NG_000007.3	42677
3162	rs1894397	N/A	NG_000007.3:g.42859G>A	Gγ	Modifier	Hb F levels	NG_000007.3	42859
3815	rs2070973	N/A	NG_000007.3:g.43439A>G	Gγ	Modifier	Severity	NG_000007.3	43439
3161	rs11036475	N/A	NG_000007.3:g.43606C>T	Gγ	Modifier	Hb F levels	NG_000007.3	43606
3160	rs11036474	N/A	NG_000007.3:g.43668A>G	Gγ	Modifier	Hb F levels	NG_000007.3	43668
2804	rs2070972	N/A	NG_000007.3:g.44129T>G	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	44129
3813	rs2236794	N/A	NG_000007.3:g.44579G>A	Gγ	Modifier	Severity	NG_000007.3	44579
2803	rs2855125	N/A	NG_000007.3:g.45159A>C	HBG1-HBG2	Modifier	Hb F levels, Severity	NG_000007.3	45159
3105	rs2255519	N/A	NG_000007.3:g.45305C>T	Gγ	Modifier	Hb F levels	NG_000007.3	45305
2802	rs2855126	N/A	NG_000007.3:g.45699G>C	HBG1-HBG2	Modifier	Hb F levels, Hyperuricemia, Severity	NG_000007.3	45699
3812	rs2855036	N/A	NG_000007.3:g.46164G>A	Aγ	Modifier	Severity	NG_000007.3	46164
2801	rs2855038	N/A	NG_000007.3:g.46692A>G	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	46692
3104	rs2855039	N/A	NG_000007.3:g.47175G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47175
2945	rs368698783 (Aγ(+25 G>A))	N/A	NG_000007.3:g.47783G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47783
3158	rs11036455	N/A	NG_000007.3:g.48428T>C	Aγ	Modifier	Hb F levels	NG_000007.3	48428
3814	rs2187608	N/A	NG_000007.3:g.48915C>G	Aγ	Modifier	Severity	NG_000007.3	48915
3159	rs201642811	N/A	NG_000007.3:g.49274T>G	Aγ	Modifier	Hb F levels	NG_000007.3	49274
2800	rs916111	N/A	NG_000007.3:g.49503A>T	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	49503
3103	rs10488676	N/A	NG_000007.3:g.50049C>T	Aγ	Modifier	Hb F levels	NG_000007.3	50049
3845	rs7924684	N/A	NG_000007.3:g.52118G>A	BGLT3	Modifier	Hb F levels	NG_000007.3	52118
3811	rs11036431	N/A	NG_000007.3:g.53166C>T	pseudo β	Modifier	Severity	NG_000007.3	53166
2815	rs2071348	N/A	NG_000007.3:g.54700A>C	pseudo β	Modifier	Hb F levels, Severity	NG_000007.3	54700
2827	rs16912210	N/A	NG_000007.3:g.54993T>C	pseudo β	Modifier	Hb F levels	NG_000007.3	54993
2128	rs10128556	N/A	NG_000007.3:g.55163G>A	pseudo β	Modifier	HPFH, Hb F levels, Severity	NG_000007.3	55163
2870	rs968856	N/A	NG_000007.3:g.58270A>G	HBD-HBBP1	Modifier	Hb F levels	NG_000007.3	58270
2811	rs2105819	N/A	NG_000007.3:g.59119C>G	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	59119
2828	rs4910736	N/A	NG_000007.3:g.59857G>T	HBD-HBBP1	Modifier	Hb F levels	NG_000007.3	59857
2810	rs4910543	N/A	NG_000007.3:g.60019C>G	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60019
2809	rs4402323	N/A	NG_000007.3:g.60254G>A	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60254
2871	rs4283007	N/A	NG_000007.3:g.60356T>A	HBD-HBBP1	Modifier	Hb F levels	NG_000007.3	60356
2808	rs4320977	N/A	NG_000007.3:g.60684T>C	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60684
2807	rs10837643	N/A	NG_000007.3:g.60808A>T	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60808
2806	rs3759074	N/A	NG_000007.3:g.61068C>T	δ	Modifier	Hb F levels, Severity	NG_000007.3	61068
2799	rs3813727	N/A	NG_000007.3:g.62934T>C	δ	Modifier	Hb F levels, Severity	NG_000007.3	62934
3187	rs35152987	N/A	NG_000007.3:g.63264G>T	δ	Modifier	Anaemia	NG_000007.3	63264
2872	rs6578588	N/A	NG_000007.3:g.66595A>G	HBB-HBD	Modifier	Hb F levels, Severity	NG_000007.3	66595
3188	rs7944544	N/A	NG_000007.3:g.66997C>A	HBB-HBD	Modifier	Anaemia	NG_000007.3	66997
3189	rs7936823	N/A	NG_000007.3:g.68678C>T	β	Modifier	Hb F levels, Anaemia, Severity	NG_000007.3	68678
2869	rs1003586	N/A	NG_000007.3:g.69476G>A	β	Modifier	Hb F levels	NG_000007.3	69476
2816	rs10837631	N/A	NG_000007.3:g.72490A>T	β	Modifier	Hb F levels	NG_000007.3	72490
3872	rs886037864	N/A	NC_000002.12:g.60546217T>G	BCL11A	Modifier	Hb F levels	NG_011968.1	12282
3873	rs886037865	N/A	NC_000002.12:g.60546213C>A	BCL11A	Modifier	Hb F levels	NG_011968.1	12286
3874	rs886037866	N/A	NC_000002.12:g.60546158G>T	BCL11A	Modifier	Hb F levels	NG_011968.1	12341
3418	rs189984760	N/A	NG_011968.1:g.47126T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	47126
3163	rs117674195	N/A	NG_011968.1:g.55290C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	55290
2073	rs10184550	N/A	NG_011968.1:g.56340C>T	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	56340
2823	rs6709302	N/A	NG_011968.1:g.58005C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	58005
2074	rs7606173	N/A	NG_011968.1:g.60183C>G	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	60183
3218	rs1896296	N/A	NG_011968.1:g.61547C>A	BCL11A	Modifier	Hb F levels	NG_011968.1	61547
2817	rs1896295	N/A	NG_011968.1:g.61548A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	61548
3102	rs6729815	N/A	NG_011968.1:g.61962A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	61962
2819	rs45606437	N/A	NG_011968.1:g.62525delG	BCL11A	Modifier	Hb F levels	NG_011968.1	62525
2818	rs6738440	N/A	NG_011968.1:g.63393T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	63393
2075	rs6706648	N/A	NG_011968.1:g.63594G>A	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	63594
2067	rs7557939	N/A	NG_011968.1:g.64287C>T	BCL11A	Modifier	Hb F levels, Pain, Anaemia	NG_011968.1	64287
2820	rs7584113	N/A	NG_011968.1:g.64323T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	64323
2066	rs4671393	N/A	NG_011968.1:g.64683T>C	BCL11A	Modifier	Hb F levels, Acute chest syndrome, F-cell numbers	NG_011968.1	64683
2793	rs10172646	N/A	NG_011968.1:g.64877C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	64877
2821	rs10195871	N/A	NG_011968.1:g.65045T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	65045
2065	rs11886868	N/A	NG_011968.1:g.65388G>A	BCL11A	Modifier	Hb F levels, Pain, Anaemia	NG_011968.1	65388
2072	rs766432	N/A	NG_011968.1:g.65664G>T	BCL11A	Modifier	Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Response to hydroxyurea	NG_011968.1	65664
3412	rs766431	N/A	NG_011968.1:g.65716T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	65716
2822	rs1896294	N/A	NG_011968.1:g.66560G>A	BCL11A	Modifier	Hb F levels	NG_011968.1	66560
2070	rs7599488	N/A	NG_011968.1:g.67287G>A	BCL11A	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011968.1	67287
2071	rs1427407	N/A	NG_011968.1:g.67591A>C	BCL11A	Modifier	Hb F levels, Pain, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Abnormal platelet count, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia	NG_011968.1	67591
3101	rs6545817	N/A	NG_011968.1:g.70455G>A	BCL11A	Modifier	Hb F levels	NG_011968.1	70455
2093	rs6545816	N/A	NG_011968.1:g.70773T>G	BCL11A	Modifier	Hb F levels, F-cell numbers, Abnormal platelet count	NG_011968.1	70773
2069	rs10189857	N/A	NG_011968.1:g.72399T>C	BCL11A	Modifier	N/A	NG_011968.1	72399
3183	rs13019832	N/A	NG_011968.1:g.75063C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	75063
2068	rs6732518	N/A	NG_011968.1:g.77037G>A	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	77037
2794	rs7579014	N/A	NG_011968.1:g.77740C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	77740
3165	rs7593947	N/A	NG_011968.1:g.80701T>A	BCL11A	Modifier	Hb F levels	NG_011968.1	80701
3164	rs7581162	N/A	NG_011968.1:g.81150A>T	BCL11A	Modifier	Hb F levels	NG_011968.1	81150
3416	rs12477097	N/A	NG_011968.1:g.87237T>G	BCL11A	Modifier	Hb F levels	NG_011968.1	87237
3859	rs7569946	N/A	NC_000002.12:g.60460824A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	97675
2795	rs17331129	N/A	NG_011968.1:g.105692A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	105692
2096	rs9399137	N/A	NC_000006.12:g.135097880T>C	HBS1L-MYB	Modifier	Hb F levels, Acute chest syndrome, Pain, Abnormal platelet count, Abnormal red blood cell count	NT_025741.15
2099	rs4895441	N/A	NC_000006.12:g.135105435A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
2101	rs9402686	N/A	NC_000006.12:g.135106679G>A	HBS1L-MYB	Modifier	Hb F levels, Acute chest syndrome	NT_025741.15
2104	rs35959442	N/A	NC_000006.12:g.135103041C>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
2840	rs66650371	N/A	NC_000006.12:g.135097495_135097497delTAC	HBS1L-MYB	Modifier	Hb F levels, Abnormal platelet count, Abnormal white blood cell count, Abnormal red blood cell count, Anaemia	NT_025741.15
2841	rs35786788	N/A	NC_000006.12:g.135097904G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
2842	rs9494145	N/A	NC_000006.12:g.135111414T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
3331	rs1547247	N/A	NC_000006.11:g.135390836G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
3857	rs13220662	N/A	NC_000006.12:g.135074410G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
3911	rs796512567	N/A	NC_000006.12:g.135097900_135097901delinsA	HBS1L-MYB	Modifier	Hb F levels, Acute chest syndrome	NT_025741.15
3912	rs7776196	N/A	NC_000006.12:g.135097850A>G	HBS1L-MYB	Modifier	Pain	NT_025741.15
2097	rs7775698	N/A	NC_000006.12:g.135097497C>T	HBS1L-MYB	Modifier	Hb F levels, Abnormal red blood cell count	NT_025741.15	0
2098	rs9389268	N/A	NC_000006.12:g.135098493A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2100	rs6929404	N/A	NC_000006.12:g.135132889C>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2102	rs1320963	N/A	NC_000006.12:g.135122074A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2103	rs6904897	N/A	NC_000006.12:g.135061842T>G	HBS1L-MYB	Modifier	F-cell numbers	NT_025741.15	0
2105	rs9376090	N/A	NC_000006.12:g.135090090T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2106	rs4895440	N/A	NC_000006.12:g.135105420A>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2109	rs9402685	N/A	NC_000006.12:g.135098550T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2110	rs11759553	N/A	NC_000006.12:g.135101158A>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2111	rs6934903	N/A	NC_000006.12:g.135130426T>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2112	rs114398597	N/A	NC_000006.12:g.135107536A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2837	rs9376092	N/A	NC_000006.12:g.135106006C>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2838	rs9389269	N/A	NC_000006.12:g.135106021T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2839	rs9483788	N/A	NC_000006.12:g.135114363T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2843	rs41294858	N/A	NC_000006.12:g.135091498T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2844	rs55731938	N/A	NC_000006.12:g.135093712G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2845	rs7745098	N/A	NC_000006.12:g.135093866C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2846	rs76267242	N/A	NC_000006.12:g.135096322G>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2847	rs11321816 (rs148201067)	N/A	NC_000006.12:g.135097900C>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2848	rs1074849	N/A	NC_000006.12:g.135102274G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2849	rs1411919	N/A	NC_000006.12:g.135110923A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2850	rs2223385	N/A	NC_000006.12:g.135114033G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2851	rs1569534	N/A	NC_000006.12:g.135130442C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3166	rs34208856	N/A	NC_000006.12:g.135099930delT	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3167	rs11356238	N/A	NC_000006.12:g.135103586delT	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3168	rs41294854	N/A	NC_000006.12:g.135080233C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3169	rs56076748	N/A	NC_000006.12:g.135093071G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3170	rs41294862	N/A	NC_000006.12:g.135098116T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3337	rs6920211	N/A	NC_000006.12:g.135110180T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3410	rs9494142 (rs11154792)	N/A	NC_000006.12:g.135110502T>C	HBS1L-MYB	Modifier	Hb F levels, F-cell numbers	NT_025741.15	0
3413	rs6913541	N/A	NC_000006.12:g.135087978A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3414	rs9494139	N/A	NC_000006.12:g.135093655A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3415	rs6569992	N/A	NC_000006.12:g.135131014G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3419	rs2210366	N/A	NC_000006.12:g.135094070G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3420	rs9376093	N/A	NC_000006.12:g.135124310C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3421	rs2078213	N/A	NC_000006.12:g.135136933T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3422	rs1320959	N/A	NC_000006.12:g.135116248T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3423	rs6924609	N/A	NC_000006.12:g.135119519A>T \| NC_000006.12:g.135119519A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3424	rs9483791	N/A	NC_000006.12:g.135121387T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3425	rs9376094	N/A	NC_000006.12:g.135124676T>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3426	rs9321485	N/A	NC_000006.12:g.135126635T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3427	rs9321486	N/A	NC_000006.12:g.135126682T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3428	rs9494149	N/A	NC_000006.12:g.135128177C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3429	rs9376095	N/A	NC_000006.12:g.135129617T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3430	rs9385716	N/A	NC_000006.12:g.135134191A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2095	rs7776054	N/A	NC_000006.12:g.135097778A>G	HBS1L-MYB	Modifier	Anaemia	NT_025741.15	39588373
3290	rs3817621 (-251 C>G )	N/A	NG_013087.1:g.4813C>G	KLF1	Modifier	Hb F levels	NG_013087.1	4813
2346	-154 C>T	N/A	NG_013087.1:g.4910C>T	KLF1	Modifier	Hb F levels	NG_013087.1	4910
3092	-148 G>A	N/A	NG_013087.1:g.4916G>A	KLF1	Modifier	Hb F levels	NG_013087.1	4916
2514	CD 5 GAG>AAG [Glu>Lys]	N/A	NG_013087.1:g.5076G>A	KLF1	Modifier	Hb F levels	NG_013087.1	5076
2084	CD 51 (CTC>CGC)	N/A	NG_013087.1:g.6126T>G	KLF1	Modifier	Hb F levels	NG_013087.1	6126
2076	CD 54-57 (-11bp): (-GAAGTCTGAGG)	N/A	NG_013087.1:g.6133_6143delGAAGTCTGAGG	KLF1	Modifier	Hb F levels	NG_013087.1	6133
2341	CD 58 (CAG>TAG)	N/A	NG_013087.1:g.6146C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6146
3291	CD 102 TCC>CCC [Ser>Pro] (c.304T>C, p.S102P)	N/A	NG_013087.1:g.6278T>C	KLF1	Modifier	Hb F levels	NG_013087.1	6278
4103	p.Gly176AlafsX179	N/A	NC_000019.10(NM_006563.5):c.525_526insGCGCCGG	KLF1	Modifier	N/A	NG_013087.1	6499
2085	CD 175/176 (+7bp): (+CGGCGCC) (c.519_525dupCGGCGCC, p.Gly176Argfs*179)	N/A	NG_013087.1:g.6493_6499dupCGGCGCC	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	6500
3485	CD 182 TTC>CTC [Phe>Leu] (rs2072596, p.F182L)	N/A	NG_013087.1:g.6518T>C	KLF1	Modifier	Hb F levels	NG_013087.1	6518
3216	rs765026103 (CD 211 CAG>CGG [Gln>Arg] , c.632 A>G)	N/A	NG_013087.1:g.6606A>G	KLF1	Modifier	Hb F levels	NG_013087.1	6606
3087	CD 217 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6623C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6623
3088	CD223 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6641C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6641
2131	CD 270 (TCG>TAG)	N/A	NG_013087.1:g.6783C>A	KLF1	Modifier	Hb F levels	NG_013087.1	6783
2515	CD 270 TCG>TGG	N/A	NG_013087.1:g.6783C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	6783
2557	CD 279 (CAC>CAG)	N/A	NG_013087.1:g.6811C>G	KLF1	Modifier	Hb F levels	NG_013087.1	6811
2088	CD 288 (AAG>TAG)	N/A	NG_013087.1:g.6836A>T	KLF1	Modifier	Hb F levels	NG_013087.1	6836
3091	CD 290/293 (-12bp) or CD 290/294 (-12bp)	N/A	NG_013087.1:g.6842_6853delTACACCAAGAGC \| NG_013087.1:g.6843_6854delACACCAAGAGCT	KLF1	Modifier	Hb F levels	NG_013087.1	6842, 6843
2345	CD 298 (GCG>CCG)	N/A	NG_013087.1:g.6866G>C	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	6866
2512	CD 299 (CAT>GAT)	N/A	NG_013087.1:g.6869C>G	KLF1	Modifier	Hb F levels	NG_013087.1	6869
2077	CD 301 CGC>TGC [Arg>Cys] (p.R301C)	N/A	NG_013087.1:g.6875C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6875
2078	CD 301 CGC>CAC [Arg>His] (p.R301H)	N/A	NG_013087.1:g.6876G>A	KLF1	Modifier	Hb F levels	NG_013087.1	6876
2278	CD 302 (+4bp): (+GCGC)	N/A	NG_013087.1:g.6877_6878insGCGC	KLF1	Modifier	Hb F levels	NG_013087.1	6877
2083	IVS II-1 (G>A) (c.913+1 G>A)	N/A	NG_013087.1:g.6888G>A	KLF1	Modifier	Hb F levels	NG_013087.1	6888
2087	IVS II-252_255 (-4bp): (-CTAG)	N/A	NG_013087.1:g.7140_7143delCTAG	KLF1	Modifier	Hb F levels	NG_013087.1	7140
3090	CD 307 AAG>AAC [Lys>Asn]	N/A	NG_013087.1:g.7151G>C	KLF1	Modifier	Hb F levels	NG_013087.1	7151
2079	CD 313 (TGG>TGT)	N/A	NG_013087.1:g.7169G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7169
3486	CD 314 GAA>GA- (c.942delA)	N/A	NG_013087.1:g.7172delA	KLF1	Modifier	Hb F levels	NG_013087.1	7172
3093	CD 316 TGC>TAC [Cys>Tyr]	N/A	NG_013087.1:g.7177G>A	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	7177
2296	CD 319 (+1bp): (+G)	N/A	NG_013087.1:g.7184dupG	KLF1	Modifier	N/A	NG_013087.1	7184
3138	CD 323 TCG>TTG [Ser>Leu] (p.Ser323Leu)	N/A	NG_013087.1:g.7198C>T	KLF1	Modifier	Hb F levels	NG_013087.1	7198
2132	CD 325 GAG>AAG [Glu>Lys] (E325K)	N/A	NG_013087.1:g.7203G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7203
2293	CD 326 (GAG>AAG)	N/A	NG_013087.1:g.7207G>T	KLF1	Modifier	N/A	NG_013087.1	7207
2294	CD 327 (ACC>AGC)	N/A	NG_013087.1:g.7210C>G	KLF1	Modifier	N/A	NG_013087.1	7210
2517	CD 328 CGC>-GC	N/A	NG_013087.1:g.7212delC	KLF1	Modifier	Anaemia	NG_013087.1	7212
2080	CD 328 (CGC>CAC)	N/A	NG_013087.1:g.7213G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7213
2081	CD 328 (CGC>CTC)	N/A	NG_013087.1:g.7213G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7213
2558	CD 329 (CAC>CGC)	N/A	NG_013087.1:g.7216A>G	KLF1	Modifier	Hb F levels	NG_013087.1	7216
2343	CD 331 (CGG>TGG)	N/A	NG_013087.1:g.7221C>T	KLF1	Modifier	Hb F levels	NG_013087.1	7221
2277	CD 332 (AAA>CAA)	N/A	NG_013087.1:g.7224A>C	KLF1	Modifier	Hb F levels	NG_013087.1	7224
2082	CD 334 (ACG>AAG)	N/A	NG_013087.1:g.7231C>A	KLF1	Modifier	Hb F levels	NG_013087.1	7231
2086	CD 334 (ACG>AGG)	N/A	NG_013087.1:g.7231C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	7231
2344	CD 335 GGG>AGG	N/A	NG_013087.1:g.7233G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7233
2516	CD 338 CCC>ACC [Pro>Thr]	N/A	NG_013087.1:g.7242C>A	KLF1	Modifier	N/A	NG_013087.1	7242
2513	rs483352839 (CD 341 TGC>TAC [Cys>Tyr], C341Y)	N/A	NG_013087.1:g.7252G>A	KLF1	Modifier	Hb F levels, Increased Hb A2 levels	NG_013087.1	7252
2559	CD 357 (CAC>CCC)	N/A	NG_013087.1:g.7300C>G	KLF1	Modifier	Hb F levels	NG_013087.1	7300
3089	CD 358 ATG>ATT [Met>Ile]	N/A	NG_013087.1:g.7304G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7304
3149	CD 360 CGC>CAC [Arg>His]	N/A	NG_013087.1:g.7309G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7309
2113	rs6530488	N/A	NG_016419.1:g.49197C>T	FRMPD4	Modifier	Hb F levels	NG_016419.1	49197
3698	rs16998911	N/A	NG_016419.1:g.49280T>C	FRMPD4	Modifier	Hb F levels, F-cell numbers	NG_016419.1	49280
2114	IVS XII-9251 G>A (rs12559632)	N/A	NG_007563.1:g.115072G>A	PHEX	Modifier	F-cell numbers	NG_007563.1	115072
2115	rs16981804	N/A	NG_007563.2:g.133649C>T	PHEX	Modifier	Hb F levels	NG_007563.1	133649
2117	rs6037828	N/A	NG_011970.1:g.40474G>A	CSNK2A1	Modifier	Hb F levels	NG_011970.1	40474
3343	rs743811	N/A	NC_000022.10:g.35792974T>C	HMOX1	Modifier	Abnormal GFR, Albuminuria	NG_023030.1
2120	-495 (A>T) (rs2071746)	N/A	NG_023030.1:g.4613A>T	HMOX1	Modifier	Hb F levels, Stroke, Vaso-occlusive crisis	NG_023030.1	4613
2789	rs3074372	N/A	NG_023030.1:g.4828_4829insGT	HMOX1	Modifier	Acute chest syndrome	NG_023030.1	4828
2788	rs12160039	N/A	NG_023030.1:g.18226T>A, NG_023030.1:g.18226T>C	HMOX1	Modifier	Acute chest syndrome	NG_023030.1	18226
2129	rs708564	N/A	NG_023386.1:g.16553C>T	CD81	Modifier	Red blood cell alloimmunisation	NG_023386.1	16553
2130	rs2237863	N/A	NG_023386.1:g.19251T>C	CD81	Modifier	Red blood cell alloimmunisation	NG_023386.1	19251
2118	rs4969555	N/A	NG_016387.1:g.6517A>G	EIF2S3	Modifier	Hb F levels	NG_016387.1	6517
2133	rs10494225	N/A	NG_011967.1:g.11702C>G	HAO2	Modifier	Hb F response to hydroxyurea	NG_011967.1	11702
2134	rs2327669	N/A	NG_011994.1:g.47849C>G	PDE7B	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011994.1	47849
2135	rs11154849	N/A	NG_011994.1:g.185472C>T	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	185472
2136	rs9376173	N/A	NG_011994.1:g.191613A>C	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	191613
4021	rs2209331	N/A	NC_000006.12:g.136121468G>A	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	274773
2137	rs1480642	N/A	NG_011994.1:g.331695C>T	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	331695
2138	IVS X-1549 A>G (rs487278)	N/A	NG_011994.1:g.333995G>A	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	333995
2143	rs380620	N/A	NG_011993.1:g.54236G>C	TOX	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011993.1	54236
2168	rs172652	N/A	NG_011993.1:g.78627T>C	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	78627
2142	rs9693712	N/A	NG_011993.1:g.89345G>A	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	89345
2694	rs851800	N/A	NG_011993.1:g.97586T>G	TOX	Modifier	Hb F levels	NG_011993.1	97586
2693	rs4737532	N/A	NG_011993.1:g.99125C>T	TOX	Modifier	Hb F levels	NG_011993.1	99125
2692	rs389349	N/A	NG_011993.1:g.99652A>C	TOX	Modifier	Hb F levels	NG_011993.1	99652
2704	rs12545204	N/A	NG_011993.1:g.150456A>T	TOX	Modifier	Hb F levels	NG_011993.1	150456
2703	rs10283344	N/A	NG_011993.1:g.153441T>A	TOX	Modifier	Hb F levels	NG_011993.1	153441
2691	rs1947178	N/A	NG_011993.1:g.164591T>C	TOX	Modifier	Hb F levels	NG_011993.1	164591
2141	rs12155519	N/A	NG_011993.1:g.187938C>T	TOX	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011993.1	187938
2690	rs6997859	N/A	NG_011993.1:g.190657A>C	TOX	Modifier	Hb F levels	NG_011993.1	190657
2689	rs10504269	N/A	NG_011993.1:g.194098T>G	TOX	Modifier	Hb F levels	NG_011993.1	194098
2140	rs765587	N/A	NG_011993.1:g.245865A>G	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	245865
2702	rs2594953	N/A	NG_011993.1:g.246558C>G	TOX	Modifier	Hb F levels	NG_011993.1	246558
2701	rs1349115	N/A	NG_011993.1:g.275034A>G	TOX	Modifier	Hb F levels	NG_011993.1	275034
2700	rs3779999	N/A	NG_011993.1:g.292546G>A	TOX	Modifier	Hb F levels	NG_011993.1	292546
2699	rs826730	N/A	NG_011993.1:g.295878A>C	TOX	Modifier	Hb F levels	NG_011993.1	295878
2169	rs826729	N/A	NG_011993.1:g.297855C>T	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	297855
2698	rs7817609	N/A	NG_011993.1:g.301929G>C	TOX	Modifier	Hb F levels	NG_011993.1	301929
2697	rs7821556	N/A	NG_011993.1:g.304719A>T	TOX	Modifier	Hb F levels	NG_011993.1	304719
2696	rs3109904	N/A	NG_011993.1:g.311267T>G	TOX	Modifier	Hb F levels	NG_011993.1	311267
2139	rs2693430	N/A	NG_011993.1:g.311720T>C	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	311720
2695	rs2726599	N/A	NG_011993.1:g.318072G>A	TOX	Modifier	Hb F levels	NG_011993.1	318072
2707	rs1483757	N/A	NG_011991.2:g.43043T>C	NOS1	Modifier	Hb F levels	NG_011991.2	43043
2145	rs7977109	N/A	NG_011991.2:g.74243C>T	NOS1	Modifier	Hb F response to hydroxyurea	NG_011991.2	74243
2144	rs7309163	N/A	NG_011991.2:g.75309G>A	NOS1	Modifier	Hb F response to hydroxyurea	NG_011991.2	75309
2706	rs3825102	N/A	NG_011991.2:g.84398G>T	NOS1	Modifier	Hb F levels	NG_011991.2	84398
2705	rs2682820	N/A	NG_011991.2:g.108542A>C	NOS1	Modifier	Hb F levels	NG_011991.2	108542
2166	rs816361	N/A	NG_011991.2:g.149452G>C	NOS1	Modifier	Hb F response to hydroxyurea	NG_011991.2	149452
2715	rs600640	N/A	NG_012003.1:g.10297C>T	FLT1	Modifier	Hb F levels	NG_012003.1	10297
2714	rs670084	N/A	NG_012003.1:g.24482G>T	FLT1	Modifier	Hb F levels	NG_012003.1	24482
2713	rs2256849	N/A	NG_012003.1:g.28414T>C	FLT1	Modifier	Hb F levels	NG_012003.1	28414
2712	rs638889	N/A	NG_012003.1:g.29914A>G	FLT1	Modifier	Hb F levels	NG_012003.1	29914
2162	rs8002446	N/A	NG_012003.1:g.76866C>T	FLT1	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_012003.1	76866
2160	rs2387634	N/A	NG_012003.1:g.83838A>G	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	83838
2148	rs2182008	N/A	NG_012003.1:g.87205T>C	FLT1	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_012003.1	87205
2711	rs9508026	N/A	NG_012003.1:g.89866G>A	FLT1	Modifier	Hb F levels	NG_012003.1	89866
2710	rs9513097	N/A	NG_012003.1:g.97877G>A	FLT1	Modifier	Hb F levels	NG_012003.1	97877
2147	rs9319428	N/A	NG_012003.1:g.100645C>T	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	100645
2146	rs3751395	N/A	NG_012003.1:g.115311G>T	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	115311
2709	rs2387632	N/A	NG_012003.1:g.157923A>G	FLT1	Modifier	Hb F levels	NG_012003.1	157923
2708	rs7987291	N/A	NG_012003.1:g.180060T>C	FLT1	Modifier	Hb F levels	NG_012003.1	180060
2274	rs10483801	N/A	NG_011964.1:g.35428C>A	ARG2	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011964.1	35428
2275	rs10483802	N/A	NG_011964.1:g.35843T>C	ARG2	Modifier	Hb F response to hydroxyurea	NG_011964.1	35843
2276	rs944725	N/A	NG_011470.1:g.22985G>A	NOS2	Modifier	Hb F response to hydroxyurea	NG_011470.1	22985
2170	rs1137933	N/A	NG_011470.1:g.26624C>T	NOS2	Modifier	Hb F response to hydroxyurea	NG_011470.1	26624
2227	rs9483947	N/A	NG_011965.1:g.13257G>A	MAP3K5	Modifier	Hb F response to hydroxyurea	NG_011965.1	13257
2229	rs9376230	N/A	NG_011965.1:g.16292G>T	MAP3K5	Modifier	Hb F response to hydroxyurea	NG_011965.1	16292
2853	rs7586110	N/A	NG_002601.2:g.97138T>G	UGT1A10	Modifier	Bilirubin levels	NG_002601.2	97138
2854	rs10168155	N/A	NG_002601.2:g.103447C>T	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	103447
2855	rs10168416	N/A	NG_002601.2:g.103698C>G	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	103698
2856	rs6759892	N/A	NG_002601.2:g.108280T>G	UGT1A10	Modifier	Gallstones, Bilirubin levels, Response to deferiprone	NG_002601.2	108280
2857	rs1105880	N/A	NG_002601.2:g.108576A>G	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	108576
2858	rs2070959	N/A	NG_002601.2:g.108802A>G	UGT1A10, UGT1A6	Modifier	Gallstones, Bilirubin levels, Response to deferiprone	NG_002601.2	108802
2859	rs1105879	N/A	NG_002601.2:g.108813A>C	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	108813
2860	rs17863787	N/A	NG_002601.2:g.117705T>G	UGT1A10	Modifier	Bilirubin levels	NG_002601.2	117705
2866	rs3755319	N/A	NG_002601.2:g.174193A>C	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	174193
2852	rs887829	N/A	NG_002601.2:g.175181C>T	UGT1A10, UGT1A6	Modifier	Gallstones, Bilirubin levels	NG_002601.2	175181
2867	rs8175347	N/A	NG_002601.2:g.175492_175493TA[5][6][7][8]	UGT1A1	Modifier	Hb F levels, Gallstones, Bilirubin levels, Abnormal red blood cell count, Anaemia	NG_002601.2	175492
2861	rs6742078	N/A	NG_002601.2:g.179250G>T	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179250
2862	rs4148324	N/A	NG_002601.2:g.179333T>G	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179333
2863	rs3771341	N/A	NG_002601.2:g.179850G>A	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179850
2864	rs4148325	N/A	NG_002601.2:g.179920C>T	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179920
2865	rs4148326	N/A	NG_002601.2:g.180073T>C	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	180073
2287	-126 (-TTT) (12020(T15>T18), c.-126TdelTTT, rs5816533 )	N/A	NT_010393.16:g.31479059delTTT	AHSP	Modifier	Anaemia	NT_010393.16	31479059
2289	IVS I-146 (G>A) (12391 (G>A), c.100-27G, rs4296276)	N/A	NT_010393.16:g.31479430G>A	AHSP	Modifier	Anaemia	NT_010393.16	31479430
2291	CD 56 GTG > GGG (V56G, rs186590045)	N/A	NT_010393.16:g.31479870T>G	AHSP	Modifier	Anaemia	NT_010393.16	31479870
2684	rs10518707	N/A	NG_011990.1:g.12428A>G	SMAD3	Modifier	Bacteremia	NG_011990.1	12428
2716	rs8038623	N/A	NG_011990.1:g.53281G>A	SMAD3	Modifier	Hb F levels	NG_011990.1	53281
2685	rs5014202	N/A	NG_012244.1:g.858T>C	SMAD6	Modifier	Bacteremia	NG_012244.1	858
2717	rs1440372	N/A	NG_012244.1:g.43478T>C	SMAD6	Modifier	Hb F levels	NG_012244.1	43478
3552	APOE ε4 (rs429358, rs7412)	N/A	NG_007084.2:g.[7903T>C;8041C>T]	APOE	Modifier	Left ventricular diastolic dysfunction	NG_007084.2	7903, 8041
3332	rs4025935	N/A	NG_009246.1:g.4023_4024delTG	GSTM1	Modifier	Cardiac iron load, Anaemia	NG_009246.1	4023
2623	rs713753	N/A	NG_023228.1:g.14418C>T	APOL1	Modifier	Focal segmental glomerulosclerosis	NG_023228.1	14418
2594	rs2239785	N/A	NG_023228.1:g.17214G>A	APOL1	Modifier	Focal segmental glomerulosclerosis	NG_023228.1	17214
2593	rs73885319 (APOL1 G1)	N/A	NG_023228.1:g.17790A>G	APOL1	Modifier	Stroke, Abnormal GFR, Proteinuria, Focal segmental glomerulosclerosis, Albuminuria	NG_023228.1	17790
3206	rs71785313 (APOL1 G2)	N/A	NG_023228.1:g.17930_17935delTTATAA	APOL1	Modifier	Abnormal GFR, Proteinuria, Albuminuria	NG_023228.1	17930
3548	rs933224	N/A	NG_011884.2:g.23061A>G	MYH9	Modifier	Abnormal GFR	NG_011884.2	23061
2641	rs16996672	N/A	NG_011884.2:g.63094G>A	MYH9	Modifier	Proteinuria, Focal segmental glomerulosclerosis	NG_011884.2	63094
2640	rs1005570	N/A	NG_011884.2:g.73790T>C	MYH9	Modifier	Proteinuria	NG_011884.2	73790
2639	rs8141189	N/A	NG_011884.2:g.74354A>T	MYH9	Modifier	Proteinuria	NG_011884.2	74354
2646	rs8141971	N/A	NG_011884.2:g.77702T>C	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	77702
2645	rs4820230	N/A	NG_011884.2:g.79525C>T	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	79525
2644	rs2157256	N/A	NG_011884.2:g.81403T>C	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	81403
2638	rs1557529	N/A	NG_011884.2:g.83535T>C	MYH9	Modifier	Proteinuria	NG_011884.2	83535
2637	rs5750248	N/A	NG_011884.2:g.86173A>G	MYH9	Modifier	Proteinuria	NG_011884.2	86173
2642	rs4821481	N/A	NG_011884.2:g.93123G>A	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	93123
2636	rs16996648	N/A	NG_011884.2:g.96313A>G	MYH9	Modifier	Proteinuria	NG_011884.2	96313
2635	rs11912763	N/A	NG_011884.2:g.104343C>T	MYH9	Modifier	Proteinuria	NG_011884.2	104343
2614	rs2240036	N/A	NG_009245.1:g.157293T>C	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	157293
2615	rs4145993	N/A	NG_009245.1:g.242152T>C	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	242152
2616	rs17022863	N/A	NG_009245.1:g.265607A>G	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	265607
2617	rs1434549	N/A	NG_009245.1:g.336782T>C	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	336782
2618	rs1560909	N/A	NG_009245.1:g.346101A>G	BMPR1B	Modifier	Leg ulcers	NG_009245.1	346101
2619	rs7661539	N/A	NG_009245.1:g.354928C>T	BMPR1B	Modifier	Leg ulcers	NG_009245.1	354928
3086	rs1800469	N/A	NG_013364.1:g.4536T>C	TGFB1	Modifier	N/A	NG_013364.1	4536
2784	rs55659002 (713-8delC)	N/A	NG_013364.1:g.16889delC	TGFB1	Modifier	Osteoporosis	NG_013364.1	16889
2911	Sp1 polymorphism (rs1800012)	N/A	NG_007400.1:g.6252G>T	COL1A1	Modifier	Osteoporosis	NG_007400.1	6252
2944	rs2228570	N/A	NG_008731.1:g.30920T>C	VDR	Modifier	Osteoporosis	NG_008731.1	30920
2910	BsmI polymorphism (rs1544410)	N/A	NG_008731.1:g.63980G>A	VDR	Modifier	Osteoporosis	NG_008731.1	63980
2774	rs398655	N/A	NG_011485.1:g.2082A>C	KL	Modifier	Hb F levels	NG_011485.1	2082
2589	rs576404	N/A	NG_011485.1:g.7530C>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	7530
2588	rs499091	N/A	NG_011485.1:g.8586A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	8586
2587	rs2238166	N/A	NG_011485.1:g.9111C>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9111
2586	rs211234	N/A	NG_011485.1:g.9558G>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9558
2578	rs211235	N/A	NG_011485.1:g.9630T>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9630
2585	rs211239	N/A	NG_011485.1:g.10619A>G	KL	Modifier	Osteonecrosis/Avascular necrosis, Priapism	NG_011485.1	10619
2584	rs565587	N/A	NG_011485.1:g.14089A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	14089
2583	rs516306	N/A	NG_011485.1:g.14707T>C	KL	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	14707
2577	rs480780	N/A	NG_011485.1:g.21749G>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	21749
2747	rs577912	N/A	NG_011485.1:g.24581T>G	KL	Modifier	Hb F levels	NG_011485.1	24581
2748	rs7982726	N/A	NG_011485.1:g.25141T>C	KL	Modifier	Hb F levels	NG_011485.1	25141
2581	rs685417	N/A	NG_011485.1:g.27562G>A	KL	Modifier	Hb F levels, Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	27562
3543	rs656525	N/A	NG_011485.1:g.37107A>C	KL	Modifier	Acute chest syndrome	NG_011485.1	37107
3330	rs1888057	N/A	NG_011485.1:g.37125C>T	KL	Modifier	Pulmonary arterial hypertension	NG_011485.1	37125
2647	rs2249358	N/A	NG_011485.1:g.37594G>A	KL	Modifier	Priapism	NG_011485.1	37594
2749	rs9527025	N/A	NG_011485.1:g.42623G>C	KL	Modifier	Hb F levels	NG_011485.1	42623
2580	rs2149860	N/A	NG_011485.1:g.43419A>G	KL	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	43419
2750	rs648202	N/A	NG_011485.1:g.49893T>C	KL	Modifier	Hb F levels	NG_011485.1	49893
2673	rs8041224	N/A	NG_009492.1:g.109905T>C	IGF1R	Modifier	Bacteremia	NG_009492.1	109905
2674	rs2872060	N/A	NG_009492.1:g.311733G>T	IGF1R	Modifier	Bacteremia	NG_009492.1	311733
2773	rs2238426	N/A	NC_000016.10:g.3953732A>G	ADCY9	Modifier	Stroke	NG_011434.1
2772	rs437115	N/A	NG_011434.1:g.14764A>G	ADCY9	Modifier	Stroke	NG_011434.1	14764
2654	rs2283497	N/A	NG_011434.1:g.105126C>A	ADCY9	Modifier	Stroke	NG_011434.1	105126
2653	rs2072338	N/A	NG_011434.1:g.114260T>C	ADCY9	Modifier	Stroke	NG_011434.1	114260
2651	rs2238432	N/A	NG_011434.1:g.157046C>T	ADCY9	Modifier	Stroke	NG_011434.1	157046
3905	rs3103333	N/A	NC_000001.11:g.91836023G>A \| NC_000001.11:g.91836023G>C	TGFBR3	Modifier	Priapism	NG_027757.1
2606	rs284157	N/A	NG_027757.1:g.104640G>A	TGFBR3	Modifier	Acute chest syndrome, Osteonecrosis/Avascular necrosis	NG_027757.1	104640
2904	rs17443164	N/A	NG_027757.1:g.130512G>C	TGFBR3	Modifier	Pulmonary arterial hypertension	NG_027757.1	130512
2609	rs10874940	N/A	NG_027757.1:g.134374G>A	TGFBR3	Modifier	Pulmonary arterial hypertension	NG_027757.1	134374
2607	rs7526590	N/A	NG_027757.1:g.155106T>A	TGFBR3	Modifier	Priapism, Pulmonary arterial hypertension	NG_027757.1	155106
2608	rs2038931	N/A	NG_027757.1:g.202145C>T	TGFBR3	Modifier	Leg ulcers	NG_027757.1	202145
2610	rs284875	N/A	NG_027757.1:g.205852T>C	TGFBR3	Modifier	Stroke	NG_027757.1	205852
2612	rs2007686	N/A	NG_027757.1:g.214117G>A	TGFBR3	Modifier	Stroke	NG_027757.1	214117
2613	rs2765888	N/A	NG_027757.1:g.214268G>A	TGFBR3	Modifier	Stroke, Bacteremia	NG_027757.1	214268
2624	rs603085	N/A	NG_011828.1:g.19114A>G	TEK	Modifier	Leg ulcers	NG_011828.1	19114
2652	rs489347	N/A	NG_011828.1:g.83070C>G	TEK	Modifier	Stroke	NG_011828.1	83070
2745	rs2305948	N/A	NG_012004.1:g.17205G>A	KDR	Modifier	Hb F levels	NG_012004.1	17205
2744	rs7654599	N/A	NG_012004.1:g.20595G>A	KDR	Modifier	Hb F levels	NG_012004.1	20595
2743	rs6828477	N/A	NG_012004.1:g.29962G>A	KDR	Modifier	Hb F levels	NG_012004.1	29962
2742	rs6554233	N/A	NG_012004.1:g.31044T>C	KDR	Modifier	Hb F levels	NG_012004.1	31044
2728	rs590086	N/A	NG_011542.1:g.28566C>T	ASS1	Modifier	Hb F levels	NG_011542.1	28566
2729	rs652313	N/A	NG_011542.1:g.31827A>G	ASS1	Modifier	Hb F levels	NG_011542.1	31827
2730	rs12555797	N/A	NG_011542.1:g.42933A>G	ASS1	Modifier	Hb F levels	NG_011542.1	42933
2946	rs10901080	N/A	NG_011542.1:g.43563G>T	ASS1	Modifier	Hb F response to hydroxyurea	NG_011542.1	43563
2731	rs543048	N/A	NG_011542.1:g.49539A>T	ASS1	Modifier	Hb F levels	NG_011542.1	49539
2947	rs10793902	N/A	NG_011542.1:g.62817C>T	ASS1	Modifier	Hb F response to hydroxyurea	NG_011542.1	62817
2732	rs4468448	N/A	NG_011963.2:g.47702T>C	ALOX5AP	Modifier	Hb F levels	NG_011963.2	47702
2733	rs4769058	N/A	NG_011963.2:g.50817T>C	ALOX5AP	Modifier	Hb F levels	NG_011963.2	50817
2734	rs4445746	N/A	NC_000013.11:g.30767298G>A	ALOX5AP	Modifier	Hb F levels	NG_011963.2	30767298
2805	rs2580874	N/A	NG_011588.1:g.11633C>T	AICDA	Modifier	Hb F levels, Severity	NG_011588.1	11633
2629	rs725937	N/A	NG_042174.1:g.14905A>G	SPARC	Modifier	Hb F levels	NG_042174.1	14905
2630	rs6874468	N/A	NG_042174.1:g.15921C>T	SPARC	Modifier	Hb F levels	NG_042174.1	15921
2628	rs7719521	N/A	NG_042174.1:g.22212T>G	SPARC	Modifier	Hb F levels	NG_042174.1	22212
2631	rs16971033	N/A	NG_032674.1:g.49520T>C	EFTUD2	Modifier	Hb F levels	NG_032674.1	49520
2632	rs2289673	N/A	NG_032674.1:g.52024A>G	EFTUD2	Modifier	Hb F levels	NG_032674.1	52024
2633	rs2304986	N/A	NG_032674.1:g.53940A>G	EFTUD2	Modifier	Hb F levels	NG_032674.1	53940
2634	rs740127	N/A	NG_011499.1:g.187063C>T	JAZF1	Modifier	Hb F levels	NG_011499.1	187063
2719	rs1867380	N/A	NG_011975.1:g.50874A>G	AQP9	Modifier	Hb F levels	NG_011975.2	50874
2650	rs2070744 (-786T>C, T786C)	N/A	NG_011992.1:g.6933C>T	NOS3	Modifier	Acute chest syndrome, Bilirubin levels, Retinopathy, Delayed menarche, Increased lactate dehydrogenase activity, Reticulocytosis, Recurrent upper respiratory tract infections	NG_011992.1	6933
3549	27bp-VNTR (eNOS4a/b)	N/A	NG_011992.1:g.11166_11192[4]	NOS3	Modifier	Stroke, Pulmonary arterial hypertension, Vaso-occlusive crisis, Red blood cell aggregation, Abnormal neutrophil cell number	NG_011992.1	11166
2948	rs1799983 (G894T)	N/A	NG_011992.1:g.12965T>G	NOS3	Modifier	Delayed menarche, Abnormal haematocrit, Increased lactate dehydrogenase activity, Reticulocytosis, Anaemia	NG_011992.1	12965
2735	rs1008140	N/A	NG_011992.1:g.22464T>C	NOS3	Modifier	Hb F levels	NG_011992.1	22464
2736	rs743507	N/A	NG_011992.1:g.24342C>T	NOS3	Modifier	Hb F levels	NG_011992.1	24342
2737	rs1808593	N/A	NG_011992.1:g.25156G>T	NOS3	Modifier	Hb F levels	NG_011992.1	25156
2741	rs6557420	N/A	NG_011995.1:g.19853C>A	NOX3	Modifier	Hb F levels	NG_011995.1	19853
2740	rs9371889	N/A	NG_011995.1:g.39392T>C	NOX3	Modifier	Hb F levels	NG_011995.1	39392
2739	rs231945	N/A	NG_011995.1:g.42114G>A	NOX3	Modifier	Hb F levels	NG_011995.1	42114
2738	rs231944	N/A	NG_011995.1:g.42270A>C	NOX3	Modifier	Hb F levels	NG_011995.1	42270
2726	rs6654096	N/A	NG_011988.1:g.10977A>G	GPM6B	Modifier	Hb F levels	NG_011988.1	10977
2725	rs5979998	N/A	NG_011988.1:g.27799C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	27799
2724	rs4830513	N/A	NG_011988.1:g.43999C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	43999
2723	rs7890737	N/A	NG_011988.1:g.44878C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	44878
2720	rs1005589	N/A	NG_011988.1:g.70485C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	70485
2721	rs11095629	N/A	NG_011988.1:g.111047G>A	GPM6B	Modifier	Hb F levels	NG_011988.1	111047
2722	rs5978663	N/A	NG_011988.1:g.157872G>A	GPM6B	Modifier	Hb F levels	NG_011988.1	157872
2622	rs157681	N/A	NG_011966.2:g.45247C>G	MAP3K7	Modifier	Hb F levels	NG_011966.2	45247
2621	rs1145729	N/A	NG_011966.2:g.46574C>T	MAP3K7	Modifier	Hb F levels	NG_011966.2	46574
2620	rs157702	N/A	NG_011966.2:g.74227G>A	MAP3K7	Modifier	Leg ulcers	NG_011966.2	74227
2891	rs2012700	N/A	NG_008462.1:g.40670G>A	PEX7	Modifier	Hb F levels	NG_008462.1	40670
2892	rs3799476	N/A	NG_008462.1:g.45356G>A	PEX7	Modifier	Hb F levels	NG_008462.1	45356
2893	rs1342645	N/A	NG_008462.1:g.68587G>A	PEX7	Modifier	Hb F levels	NG_008462.1	68587
2604	rs1019856	N/A	NG_007490.1:g.53823T>C	TGFBR2	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis, Stroke	NG_007490.1	53823
2605	rs934328	N/A	NG_007490.1:g.64751G>A	TGFBR2	Modifier	Osteonecrosis/Avascular necrosis	NG_007490.1	64751
2929	rs3773658	N/A	NG_007490.1:g.81443A>G	TGFBR2	Modifier	Stroke	NG_007490.1	81443
2928	rs876687	N/A	NG_007490.1:g.82652T>C	TGFBR2	Modifier	Stroke	NG_007490.1	82652
2909	rs11969912 (hcv1860621)	N/A	NG_008107.1:g.149950C>T	F13A1	Modifier	Priapism	NG_008107.1	149950
2897	rs5923	N/A	NG_009778.1:g.9063C>T	LCAT	Modifier	Pulmonary arterial hypertension	NG_009778.1	9063
2657	rs3753306	N/A	NG_012125.1:g.4146A>G	SELP	Modifier	Stroke	NG_012125.1	4146
2901	rs6131	N/A	NG_012125.1:g.23493G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	23493
2656	rs3917733	N/A	NG_012125.1:g.23868G>A	SELP	Modifier	Stroke	NG_012125.1	23868
2900	rs2235302	N/A	NG_012125.1:g.24088G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	24088
2655	rs2420378	N/A	NG_012125.1:g.34460T>A	SELP	Modifier	Stroke	NG_012125.1	34460
2649	rs706814	N/A	NG_009549.1:g.14642A>T	ACVRL1	Modifier	Pulmonary arterial hypertension	NG_009549.1	14642
2648	rs1801253	N/A	NG_012187.1:g.6251G>C	ADRB1	Modifier	Pulmonary arterial hypertension	NG_012187.1	6251
2908	rs1624292	N/A	NG_029954.1:g.65626T>C	NEDD4L	Modifier	Pulmonary arterial hypertension	NG_029954.1	65626
2907	rs559046	N/A	NG_029954.1:g.68394A>G	NEDD4L	Modifier	Pulmonary arterial hypertension	NG_029954.1	68394
2902	rs426634	N/A	NG_007951.1:g.63342G>A	SLC12A6	Modifier	Pulmonary arterial hypertension	NG_007951.1	63342
2687	rs3730070	N/A	NG_042166.1:g.19032C>G	ADCY6	Modifier	Haemolytic anaemia, RBC adhesion	NG_042166.1	19032
2903	rs9804777	N/A	NG_042166.1:g.23055A>G	ADCY6	Modifier	Pulmonary arterial hypertension	NG_042166.1	23055
2688	rs7300155	N/A	NG_042166.1:g.25282C>T	ADCY6	Modifier	RBC adhesion	NG_042166.1	25282
2895	rs6663530	N/A	NG_007481.1:g.96969G>A	CR1	Modifier	Pulmonary arterial hypertension	NG_007481.1	96969
3205	rs2814778	N/A	NG_011626.2:g.5174T>C	ACKR1	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count, Albuminuria	NG_011626.1	5174
2627	rs4489951	N/A	NG_008305.1:g.36684G>A	MAP2K1	Modifier	Hb F levels	NG_008305.1	36684
2626	rs8036023	N/A	NG_008305.1:g.57075G>C	MAP2K1	Modifier	Leg ulcers	NG_008305.1	57075
2625	rs9576135	N/A	NG_016963.1:g.17251T>C	SMAD9	Modifier	Leg ulcers	NG_016963.1	17251
2906	rs2068991	N/A	NG_042284.1:g.25565T>G	SMAD1	Modifier	Acute chest syndrome	NG_042284.1	25565
2601	rs538874	N/A	NG_029752.2:g.566235C>T	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	566235
2602	rs475303	N/A	NG_029752.2:g.575929A>G	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	575929
2675	rs6586039	N/A	NG_009362.1:g.57170G>A	BMPR1A	Modifier	Bacteremia	NG_009362.1	57170
2676	rs17107199 (hCV1663921)	N/A	NG_009362.1:g.167412C>T	BMPR1A	Modifier	Bacteremia	NG_009362.1	167412
3653	rs3892097	N/A	NG_008376.3:g.6047G>A	CYP2D6	Modifier	Response to hydroxyurea	NG_008376.3	6047
2672	rs7147286	N/A	NG_008647.1:g.15878C>T	GCH1	Modifier	Pain	NG_008647.1	15878
2669	rs12720497	N/A	NG_012203.1:g.37389C>T	PLA2G4A	Modifier	Pain	NG_012203.1	37389
3553	rs1800450	N/A	NG_008196.1:g.5226G>A	MBL2	Modifier	Recurrent infections	NG_008196.1	5226
3554	rs1800451	N/A	NG_008196.1:g.5235G>A	MBL2	Modifier	Recurrent infections	NG_008196.1	5235
2670	rs5911 (HPA-3)	N/A	NG_008331.1:g.18809T>G	ITGA2B	Modifier	Vaso-occlusive crisis	NG_008331.1	18809
2671	rs1801106 (HPA-5)	N/A	NG_008330.1:g.78602G>A	ITGA2	Modifier	Vaso-occlusive crisis	NG_008330.1	78602
3114	T8002C	N/A	N/A	EDN1	Modifier	Acute chest syndrome	NG_016196.1	8002
2592	rs5369	N/A	NG_016196.1:g.8730A>G	EDN1	Modifier	Osteonecrosis/Avascular necrosis	NG_016196.1	8730
3113	rs5370 (5665G>T)	N/A	NG_016196.1:g.10727G>T	EDN1	Modifier	Acute chest syndrome, Pulmonary arterial hypertension, Vaso-occlusive crisis	NG_016196.1	10727
2599	rs212531	N/A	NG_013008.1:g.88757C>T	ECE1	Modifier	Stroke	NG_013008.1	88757
2598	rs212528	N/A	NG_013008.1:g.91374A>G	ECE1	Modifier	Stroke	NG_013008.1	91374
2597	rs212527	N/A	NG_013008.1:g.92021G>A	ECE1	Modifier	Osteonecrosis/Avascular necrosis	NG_013008.1	92021
3898	rs1409419	N/A	NC_000001.11:g.100717840T>C	VCAM1	Modifier	Stroke	NG_023034.2	3100
2665	rs1041163 (−1594T>C)	N/A	NG_023034.2:g.3529T>C	VCAM1	Modifier	Stroke	NG_023034.2	3529
2667	rs3783613 (G1238C)	N/A	NG_023034.2:g.16491G>C	VCAM1	Modifier	Stroke	NG_023034.2	16491
2596	rs2836430	N/A	NG_029732.1:g.189152A>C	ERG	Modifier	Osteonecrosis/Avascular necrosis	NG_029732.1	189152
2595	rs979091	N/A	NG_029732.1:g.240941G>T	ERG	Modifier	Osteonecrosis/Avascular necrosis	NG_029732.1	240941
2658	rs989554	N/A	NG_029732.1:g.251778C>T	ERG	Modifier	Stroke	NG_029732.1	251778
2572	rs1801133 (C677T)	N/A	NG_013351.1:g.14783C>T	MTHFR	Modifier	Osteonecrosis/Avascular necrosis, Pain, Abnormal circulating homocysteine concentration	NG_013351.1	14783
3198	rs17778257	N/A	NG_016421.1:g.3422A>T	ADRB2	Modifier	Pain	NG_016421.1	3422
3199	rs12654778	N/A	NG_016421.1:g.4586G>A	ADRB2	Modifier	Pain	NG_016421.1	4586
3200	rs11168070	N/A	NG_016421.1:g.4772G>C	ADRB2	Modifier	Pain	NG_016421.1	4772
3202	rs11959427	N/A	NG_016421.1:g.4873C>T	ADRB2	Modifier	Pain	NG_016421.1	4873
3203	rs1042711	N/A	NG_016421.1:g.5193C>T	ADRB2	Modifier	Pain	NG_016421.1	5193
3204	rs1801704	N/A	NG_016421.1:g.5220C>T	ADRB2	Modifier	Pain	NG_016421.1	5220
2686	rs1042713	N/A	NG_016421.1:g.5285A>G, NG_016421.1:g.5285A=	ADRB2	Modifier	Pain, RBC adhesion	NG_016421.1	5285
2659	rs1042714 (Q27E)	N/A	NG_016421.1:g.5318C>G	ADRB2	Modifier	Stroke	NG_016421.1	5318
2894	rs5742911	N/A	NG_009060.1:g.48389A>G	LDLR	Modifier	Stroke	NG_009060.1	48389
2668	rs1800629 (–308G>A)	N/A	NG_007462.1:g.4682G>A	TNF	Modifier	Stroke, Decreased serum ferritin	NG_007462.1	4682
2666	rs3025058 (MMP3 -1171insA , -1171 5A/6A MMP-3)	N/A	NG_012100.1:g.3394_3395insT	MMP3	Modifier	Stroke	NG_012100.1	3394
2660	rs1805015	N/A	NG_012086.1:g.53930T>C	IL4R	Modifier	Stroke	NG_012086.1	53930
2661	rs730012	N/A	NG_028161.1:g.4653A>C	LTC4S	Modifier	Stroke	NG_028161.1	4653
2778	rs38850	N/A	NG_008996.1:g.30191G>A	MET	Modifier	Stroke	NG_008996.1	30191
2779	rs38859	N/A	NG_008996.1:g.71636C>T	MET	Modifier	Stroke	NG_008996.1	71636
2780	rs4586	N/A	NG_012123.1:g.5974T>C	CCL2	Modifier	Stroke	NG_012123.1	5974
2781	rs25882	N/A	NG_033024.1:g.6976T>C	CSF2	Modifier	Stroke	NG_033024.1	6976
2782	rs7203560	N/A	NG_029669.1:g.9308A>C	NPRL3	Modifier	Haemolytic anaemia, Bilirubin levels, Reticulocytopenia	NG_029669.1	9308
3194	rs570013781	N/A	NG_029669.1:g.44159C>T	NPRL3	Modifier	Anaemia	NG_029669.1	44159
2783	rs6972505	N/A	NC_000007.14:g.103423590C>G	SLC26A5	Modifier	Severity	NG_023055.1	27588
3834	rs7804867	N/A	NC_000007.14:g.103393310G>A	SLC26A5	Modifier	Severity	NG_023055.1	57868
2949	rs8099917	N/A	NC_000019.10:g.39252525T>G	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	0
2786	rs4803221	N/A	NG_042193.1:g.1483G>C	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	1483
2785	rs12979860	N/A	NG_042193.1:g.1825G>A	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	1825
2094	rs28384513	N/A	NG_012002.1:g.4828A>C	HBS1L	Modifier	Hb F levels	NG_012002.1	4828
3358	rs2297339 ( C32T, -162C>T)	N/A	NG_012002.1:g.5046C>T	HBS1L	Modifier	Hb F levels	NG_012002.1	5046
3184	rs11754265	N/A	NG_012002.1:g.24821C>G	HBS1L	Modifier	Hb F levels	NG_012002.1	24821
3171	rs186765701	N/A	NG_012002.1:g.56872T>G	HBS1L	Modifier	Hb F levels	NG_012002.1	56872
3833	rs4376364	N/A	NC_000006.12:g.134986347T>G	HBS1L	Modifier	Severity	NG_012002.1	73552
2905	rs35711585	N/A	NG_009363.1:g.174302G>C	BMPR2	Modifier	Pulmonary arterial hypertension	NG_009363.1	174302
2885	rs17199249	N/A	NG_009363.1:g.190619T>G	BMPR2	Modifier	Pulmonary arterial hypertension	NG_009363.1	190619
2920	rs17599586	N/A	NG_007086.2:g.15355C>T	ARG1	Modifier	Hb F response to hydroxyurea	NG_007086.2	15355
2921	rs1143634 (+3954 C>T)	N/A	NG_008851.1:g.8967C>T	IL1B	Modifier	Osteonecrosis/Avascular necrosis, Pulmonary arterial hypertension, Reticulocytopenia	NG_008851.1	8967
2922	rs1800797 (-597G>A)	N/A	NG_011640.1:g.4456A>G	IL6	Modifier	Retinopathy	NG_011640.1	4456
2923	rs1800795 (-174G>C)	N/A	NG_011640.1:g.4880C>G	IL6	Modifier	Leg ulcers, Stroke	NG_011640.1	4880
2925	rs186996510 (12C>G)	N/A	NG_015865.1:g.8168C>G	EGLN1	Modifier	Anaemia	NG_015865.1	8168
2927	rs13419896	N/A	NG_016000.1:g.36805G>A	EPAS1	Modifier	Anaemia	NG_016000.1	36805
2926	rs4953354	N/A	NG_016000.1:g.55848A>G	EPAS1	Modifier	Anaemia	NG_016000.1	55848
2931	rs1044498 (K173Q)	N/A	NG_008206.1:g.48213A>C	ENPP1	Modifier	Stroke	NG_008206.1	48213
2932	rs662 (Q192R)	N/A	NG_008779.1:g.21439A>G	PON1	Modifier	Stroke	NG_008779.1	21439
2942	rs699	N/A	NG_008836.1:g.9543T>C	AGT	Modifier	Stroke	NG_008836.1	9543
2941	rs1695 (GSTP1 Ile105Val)	N/A	NG_012075.1:g.6624A>G	GSTP1	Modifier	Hb F levels, Osteoporosis, Increased Hb A2 levels, Abnormal red blood cell count, Reticulocytopenia	NG_012075.1	6624
2943	rs2282786	N/A	NG_011441.1:g.93457T>C	EGF	Modifier	Abnormal platelet count	NG_011441.1	93457
2940	rs2280789 (g.In1.+1T>C)	N/A	NG_015990.1:g.5375T>C	CCL5	Modifier	Recurrent infections	NG_015990.1	5375
3491	rs2076086	N/A	NG_012856.2:g.40068G>A	TMPRSS6	Modifier	Abnormal Hb	NG_012856.2	40068
3082	rs2413450	N/A	NG_012856.2:g.40380A>G	TMPRSS6	Modifier	Anaemia	NG_012856.2	40380
3083	rs4820268	N/A	NG_012856.2:g.41013C>T	TMPRSS6	Modifier	Anaemia	NG_012856.2	41013
3085	rs200434923	N/A	NG_012856.2:g.45214_45218delCCCCA	TMPRSS6	Modifier	Abnormal hepcidin level	NG_012856.2	45214
3084	rs855791	N/A	NG_012856.2:g.47668T>C	TMPRSS6	Modifier	Abnormal hepcidin level	NG_012856.2	47668
3094	rs144300387	N/A	NG_016323.1:g.6589T>C	PROC	Modifier	Thromboembolism	NG_016323.1	6589
3095	rs5936	N/A	NG_016323.1:g.9877G>T	PROC	Modifier	Thromboembolism	NG_016323.1	9877
3096	rs146922325	N/A	NG_016323.1:g.12695C>T	PROC	Modifier	Thromboembolism	NG_016323.1	12695
3097	rs1867504	N/A	NG_008673.3:g.196A>G	TF	Modifier	Increased serum ferritin, Anaemia	NG_013080.1	196
3098	rs1799852	N/A	NG_013080.1:g.15746C>T	TF	Modifier	Decreased serum ferritin	NG_013080.1	15746
3099	rs3811658	N/A	NG_013080.1:g.16876C>T	TF	Modifier	Anaemia	NG_013080.1	16876
3115	rs6025	N/A	NG_011806.1:g.41721G>A	F5	Modifier	Thromboembolism	NG_011806.1	41721
3116	rs1799963	N/A	NG_008953.1:g.25313G>A	F2	Modifier	Thromboembolism	NG_008953.1	25313
3117	rs5361	N/A	NG_012124.1:g.7161A>C	SELE	Modifier	Thromboembolism	NG_012124.1	7161
3122	rs10421768	N/A	NG_011563.1:g.4490A>G	HAMP	Modifier	Increased serum ferritin, Increased liver iron level, Anaemia	NG_011563.1	4490
3121	rs7385804	N/A	NG_007989.1:g.8204G>T	TFR2	Modifier	Decreased serum ferritin	NG_007989.1	8204
3120	rs1799945	N/A	NG_008720.2:g.8671C>G	HFE	Modifier	Increased serum iron, Elevated transferrin saturation, Increased serum ferritin	NG_008720.2	8671
3118	rs1613662	N/A	NG_031963.2:g.18038C>T	GP6	Modifier	Thromboembolism	NG_031963.2	18038
3124	rs747259055	N/A	NG_009813.1:g.82497G>A	PROS1	Modifier	Thromboembolism	NG_009813.1	82497
3125	rs5877	N/A	NG_012462.1:g.12655A>G	SERPINC1	Modifier	Thromboembolism	NG_012462.1	12655
3329	rs2227617	N/A	NG_012462.1:g.17458C>T	SERPINC1	Modifier	Pulmonary arterial hypertension	NG_012462.1	17458
3123	rs10904850	N/A	NG_008967.1:g.179110C>T	CUBN	Modifier	Anaemia	NG_008967.1	179110
3210	rs111265129	N/A	NG_008967.1:g.283485A>G	CUBN	Modifier	Abnormal GFR	NG_008967.1	283485
3119	rs13146272	N/A	NG_007965.1:g.12538C>A	CYP4V2	Modifier	Thromboembolism	NG_007965.1	12538
3126	rs61743453	N/A	NG_001332.2:g.46438G>C	SALL2	Modifier	Hb F response to hydroxyurea	NG_051069.1	46438
3129	rs2273668	N/A	NG_029518.1:g.97190C>A	SESN1	Modifier	Hb F response to hydroxyurea	NG_029518.1	97190
3131	rs61749462	N/A	NG_012324.1:g.24715C>A \| NG_012324.1:g.24715C>T	KRT80	Modifier	Hb F response to hydroxyurea	NG_012324.1	24715
3136	rs2606345	N/A	NG_008431.1:g.7294C>A	CYP1A1	Modifier	Response to deferasirox	NG_008431.2	7294
3134	rs762551	N/A	NG_008431.1:g.32035C>A	CYP1A2	Modifier	Response to deferasirox	NG_008431.2	32035
3135	rs2470890	N/A	NG_008431.1:g.37544C>T \| NG_008431.1:g.37544C=	CYP1A2	Modifier	Response to deferasirox	NG_008431.2	37544
3137	rs2273697	N/A	NG_011798.1:g.26353G>A	ABCC2	Modifier	Response to deferasirox	NG_011798.1	26353
2116	rs6630120	N/A	NC_000023.11:g.25718363A>G	RANBP1P1-MAGEB18	Modifier	F-cell numbers	N/A
2119	rs12103880	N/A	NC_000017.11:g.9795025G>A	DHRS7C-GLP2R	Modifier	Hb F levels, Hb F response to hydroxyurea	N/A
2603	rs648464	N/A	NC_000013.11:g.33093328G>A	STARD13	Modifier	Osteonecrosis/Avascular necrosis	N/A
2678	rs8007267	N/A	NC_000014.9:g.54912273C>T	GCH1	Modifier	Pain	N/A
2679	rs17728960	N/A	NC_000020.11:g.51513177T>C	NFATC2	Modifier	Acute chest syndrome	N/A
2746	rs7985485 (hCV3118898)	N/A	NC_000013.11:g.32786336C>A	PDS5B	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2751	rs7170421 (hCV11770326)	N/A	NC_000015.10:g.60341947C>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2752	rs7170178	N/A	NC_000015.10:g.60341655G>A	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2753	rs1033028	N/A	NC_000015.10:g.60324736T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2754	rs11853426 (hCV26910500)	N/A	NC_000015.10:g.60317231C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis, Stroke	N/A
2758	rs9920494 (hCV1571628)	N/A	NC_000015.10:g.60313715T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2760	rs270393	N/A	NC_000006.12:g.7768619G>C	BMP6	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2763	rs1225934	N/A	NC_000006.12:g.7877186A>C	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2764	rs3812163	N/A	NC_000006.12:g.7725527A>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2766	rs10244884	N/A	NC_000007.14:g.30932180T>C	AQP1	Modifier	Priapism	N/A
2767	rs3768780	N/A	NC_000002.12:g.186613773A>G	ITGAV	Modifier	Priapism	N/A
2768	rs219825	N/A	NC_000007.14:g.99047942C>G	SMURF1	Modifier	Leg ulcers	N/A
2769	rs736839	N/A	NC_000018.10:g.49001695C>T	SMAD7	Modifier	Acute chest syndrome, Leg ulcers	N/A
2770	rs3847859	N/A	NC_000012.12:g.51899716G>A	ACVRL1	Modifier	Pulmonary arterial hypertension	N/A
2771	rs267192	N/A	NC_000006.12:g.7845011C>T	BMP6	Modifier	Pulmonary arterial hypertension	N/A
2775	rs1122109	N/A	NC_000017.11:g.44807170C>A	GJC1	Modifier	Hb F levels	N/A
2776	rs2108393	N/A	NC_000017.11:g.44803385C>T	GJC1	Modifier	Hb F levels	N/A
2777	rs776717	N/A	NC_000015.10:g.42109454T>C	PLA2G4D-PLA2G4F	Modifier	Hb F levels	N/A
2787	rs4808793	N/A	NC_000019.10:g.18383027G>C	GDF15	Modifier	Abnormal hepcidin level	N/A
2791	rs840716	N/A	NC_000011.10:g.4932232G>T	OR51G1-OR51A3P	Modifier	Hb F levels	N/A
2796	rs1391619	N/A	NC_000011.10:g.5434699G>A	OR51B5	Modifier	Hb F levels	N/A
2797	rs7937649	N/A	NC_000011.10:g.5201149G>A	OR51V1	Modifier	Hb F levels	N/A
2798	rs10837540	N/A	NC_000011.10:g.5193183T>A	OR52Z1-OR51V1	Modifier	Hb F levels	N/A
2829	rs5006884	N/A	NC_000011.10:g.5352021C>T	OR51B6	Modifier	Hb F levels, Acute chest syndrome	N/A
2830	rs4910755	N/A	NC_000011.10:g.5351521A>C	OR51B6	Modifier	Hb F levels	N/A
2831	rs4910756	N/A	NC_000011.10:g.5351626A>G	OR51B6	Modifier	Hb F levels	N/A
2832	rs7483122	N/A	NC_000011.10:g.5351776T>C	OR51B6	Modifier	Hb F levels	N/A
2833	rs5006883	N/A	NC_000011.10:g.5352081T>C	OR51B6	Modifier	Hb F levels	N/A
2834	rs5024042	N/A	NC_000011.10:g.5352332C>A	OR51B6	Modifier	Hb F levels	N/A
2835	rs10500635	N/A	NC_000011.10:g.5365438G>A	OR51B5	Modifier	Hb F levels	N/A
2836	rs416586	N/A	NC_000011.10:g.5472327A>G	OR51B5	Modifier	Hb F levels	N/A
2868	rs11037191	N/A	NC_000011.10:g.5390842A>G	OR51B5	Modifier	Hb F levels	N/A
2873	rs11036238	N/A	NC_000011.10:g.5204405G>C	OR51V1-HBB	Modifier	Hb F levels	N/A
2875	rs10836955	N/A	NC_000011.10:g.4924401G>A	OR51G1	Modifier	Hb F levels	N/A
2877	rs2340653	N/A	NC_000011.10:g.5430531G>A	OR51B5	Modifier	Hb F levels	N/A
2878	rs2647579	N/A	NC_000011.10:g.5419057A>G	OR51B5	Modifier	Hb F levels	N/A
2879	rs7951206	N/A	NC_000011.10:g.4590424G>A	OR52I2-OR52I1	Modifier	Hb F levels	N/A
2880	rs888082	N/A	NC_000002.12:g.60402474G>A	LOC102724142	Modifier	Hb F levels	N/A
2881	rs12286144	N/A	NC_000011.10:g.5521789T>C	OLFM5P	Modifier	Hb F levels	N/A
2882	rs12802922	N/A	NC_000011.10:g.4914380C>T	OR51G2	Modifier	Hb F levels	N/A
2883	rs4821469	N/A	NC_000022.11:g.36220399T>C	APOL4-APOL2	Modifier	Focal segmental glomerulosclerosis	N/A
2884	rs4821475	N/A	NC_000022.11:g.36273049C>T	APOL1-MYH9	Modifier	Focal segmental glomerulosclerosis	N/A
2886	rs243027	N/A	NC_000002.12:g.60379872T>G	MIR4432HG	Modifier	F-cell numbers	N/A
2887	rs243081	N/A	NC_000002.12:g.60386641G>A	MIR4432HG	Modifier	F-cell numbers	N/A
2888	rs2179288	N/A	NC_000006.12:g.136368292A>G	MAP7	Modifier	Hb F levels	N/A
2889	rs2076192	N/A	NC_000006.12:g.136377559C>A	MAP7	Modifier	Hb F levels	N/A
2890	rs3778314	N/A	NC_000006.12:g.136516923T>C	MAP7	Modifier	Hb F levels	N/A
2896	rs3027045	N/A	NC_000001.11:g.159212305C>T	ACKR1	Modifier	Pulmonary arterial hypertension	N/A
2898	rs10492226	N/A	NC_000012.12:g.96010211T>A	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2899	rs1978331	N/A	NC_000012.12:g.96015423A>G	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2919	rs2295644	N/A	NC_000014.9:g.67599842A>T	ARG2	Modifier	Hb F response to hydroxyurea	N/A
2924	rs4786504	N/A	NC_000016.10:g.4487692T>C	HMOX2	Modifier	Anaemia	N/A
2930	rs3732410 (Y1212C)	N/A	NC_000003.12:g.121696873T>C	GOLGB1	Modifier	Stroke	N/A
2933	rs799813	N/A	NC_000002.12:g.154354666C>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2934	rs10497120	N/A	NC_000002.12:g.153513398A>C	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2935	rs13407922	N/A	NC_000002.12:g.154425285G>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2936	rs16833378	N/A	NC_000002.12:g.153515514A>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2937	rs9808145	N/A	NC_000002.12:g.154425689T>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2938	rs7208480	N/A	NC_000017.11:g.15770470C>T	ADORA2B	Modifier	Pulmonary arterial hypertension	N/A
2939	rs2794452	N/A	NC_000001.11:g.203468576T>C	PRELP	Modifier	Pulmonary arterial hypertension	N/A
3127	rs141631682	N/A	NC_000014.9:g.99865589G>A	EML1	Modifier	Hb F response to hydroxyurea	N/A
3128	rs17126352	N/A	NC_000014.9:g.73254537G>A	PAPLN	Modifier	Hb F response to hydroxyurea	N/A
3130	rs61746132	N/A	NC_000004.12:g.154235260G>A	DCHS2	Modifier	Hb F response to hydroxyurea	N/A
3132	rs61742645	N/A	NC_000007.14:g.156969123C>T	NOM1	Modifier	Hb F response to hydroxyurea	N/A
3151	rs10756993	N/A	NC_000009.12:g.18839726A>C	ADAMTSL1	Modifier	Hb F levels	N/A
3152	rs62573842	N/A	NC_000009.12:g.32264314A>G	HMGB3P23-RNA5SP281	Modifier	Hb F levels	N/A
3154	rs7163278	N/A	NC_000015.10:g.93345162T>C	LOC105370982	Modifier	Hb F levels	N/A
3155	rs10468869	N/A	NW_003315959.1:g.26240C>T	LOC100422053-RPS8P3	Modifier	Hb F levels	N/A
3156	rs28567737	N/A	NC_000019.10:g.46027961T>C	LOC105372421	Modifier	Hb F levels	N/A
3173	rs11072544	N/A	NC_000015.10:g.75373740G>A	SIN3A	Modifier	Hb F levels	N/A
3174	rs7166737	N/A	NC_000015.10:g.75390172A>G	SIN3A	Modifier	Hb F response to hydroxyurea	N/A
3181	rs141006889	N/A	NC_000016.10:g.88534873A>G	FOG1	Modifier	Anaemia	N/A
3196	rs1478605	N/A	NC_000015.10:g.39581083G>A	THBS1	Modifier	Pulmonary arterial hypertension	N/A
3197	rs10877969	N/A	NC_000012.12:g.63153459T>C	AVPR1A	Modifier	Pain	N/A
3220	rs4713339	N/A	NC_000006.12:g.11287099C>T	NEDD9	Modifier	Hb F levels	N/A
3285	rs11759328	N/A	NC_000006.12:g.129691228C>T	ARHGAP18	Modifier	Hb F levels	N/A
3300	rs6777055	N/A	NC_000003.12:g.55039890A>C	CACNA2D3	Modifier	Vaso-occlusive crisis	N/A
3304	rs734784	N/A	NC_000020.11:g.45094986T>C	KCNS1	Modifier	Vaso-occlusive crisis	N/A
3347	rs10499052	N/A	NC_000006.12:g.109564272G>A	AK9	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	N/A
3579	rs3115229	N/A	NC_000004.12:g.122088578T>C	TRPC3-KIAA1109	Modifier	Vaso-occlusive crisis	N/A
3637	rs11968814	N/A	NC_000006.12:g.71067268G>A	B3GAT2-BECN1P2	Modifier	F-cell numbers	N/A
3639	rs10017284	N/A	NC_000004.12:g.120592060A>G	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3641	rs1845344	N/A	NC_000004.12:g.120041230G>T	PDE5A-MAD2L1	Modifier	F-cell numbers	N/A
3643	rs2577720	N/A	NC_000002.12:g.23325743A>C	LOC107985792-KLHL29	Modifier	F-cell numbers	N/A
3644	rs17135859	N/A	NC_000005.10:g.113660957T>C	YTHDC2-KCNN2	Modifier	F-cell numbers	N/A
3645	rs16914695	N/A	NC_000009.12:g.29336305A>G	PDK1P1-ME2P1	Modifier	F-cell numbers	N/A
3648	rs830868	N/A	NC_000005.10:g.52622080G>T	MFSD4BP1-ITGA1	Modifier	F-cell numbers	N/A
3658	rs1949857	N/A	NC_000007.14:g.71006906C>T	AUTS2-GALNT17	Modifier	F-cell numbers	N/A
3659	rs9304395	N/A	NC_000018.10:g.50309414G>T	CXXC1-RNA5SP458	Modifier	F-cell numbers	N/A
3660	rs4395533	N/A	NC_000004.12:g.120560795G>A	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3662	rs6891834	N/A	NC_000005.10:g.171841199C>T	LOC107986476	Modifier	F-cell numbers	N/A
3664	rs10439027	N/A	NC_000018.10:g.62620051T>C	ZCCHC2-RN7SL705P	Modifier	F-cell numbers	N/A
3666	rs2954930	N/A	NC_000012.12:g.11899768G>A	ETV6-BCL2L14	Modifier	F-cell numbers	N/A
3669	rs1442080	N/A	NC_000018.10:g.53658224G>A	RPL29P32-MBD2	Modifier	F-cell numbers	N/A
3670	rs584297	N/A	NC_000001.11:g.226520780T>C	LOC105373115	Modifier	F-cell numbers	N/A
3810	rs3759073	N/A	NG_000007.3:g.60581A>G	HBD-HBBP1	Modifier	Severity	N/A
3829	rs366257	N/A	NC_000011.10:g.5469313C>T	OR51B5	Modifier	Severity	N/A
3830	rs446541	N/A	NC_000011.10:g.5471070A>T	OR51B5	Modifier	Severity	N/A
3831	rs2030090	N/A	NC_000011.10:g.5452863A>G	OR51I2	Modifier	Severity	N/A
3832	rs3886223	N/A	NC_000011.10:g.5322517G>T	OR51B3P-OR51B2	Modifier	Severity	N/A
3858	rs1406811	N/A	NC_000006.12:g.135118989A>C	HBS1L-MYB	Modifier	Hb F levels	N/A
3908	rs201658643	N/A	NC_000022.11:g.34468965_34468966dup	LOC105373012-LOC441996	Modifier	Stroke	N/A
3909	rs10142478	N/A	NC_000014.9:g.21481668C>A	TOX4	Modifier	Stroke	N/A
3979	PUM1:p.H1090Pfs*16	N/A	NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del	PUM1	Modifier	Hb F levels	N/A
3999	rs9315599	N/A	NC_000013.11:g.20463469C>G	CRYL1	Modifier	Proteinuria	N/A
4003	rs4903539	N/A	NC_000014.9:g.77066345T>G	LINC02288	Modifier	Abnormal GFR	N/A
4004	rs7526762	N/A	NC_000001.11:g.74527634A>G	FPGT-TNNI3K	Modifier	Abnormal GFR	N/A
4050	rs766003	N/A	NC_000009.12:g.69865524G>A	CFAP95	Modifier	Severity	N/A
4053	rs6443662	N/A	NC_000003.12:g.179633577C>T	NDUFB5-USP13	Modifier	Severity	N/A
4056	rs234915	N/A	NC_000006.12:g.2209343T>G	GMDS	Modifier	Severity	N/A
2591	rs7163836	N/A	NC_000015.10:g.60348029C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A	0
2611	rs2148322	N/A	NC_000001.11:g.91656775A>C	TGFBR3	Modifier	Stroke	N/A	0
3475	rs1176758	N/A	NC_000011.10:g.113899633G>A	HTRB3	Modifier	Acute chest syndrome	N/A	0
3477	rs9927848	N/A	NC_000016.10:g.23821750C>A	CHP2-PRKCB	Modifier	Acute chest syndrome	N/A	0
3479	rs6141803	N/A	NC_000020.11:g.32752550T>C	COMMD7-DNMT3B	Modifier	Acute chest syndrome	N/A	0
3519	rs11859733	N/A	NC_000016.10:g.58297869T>C	PRSS54-RNU6-269P	Modifier	Abnormal red blood cell count	N/A	0
3520	rs8070454	N/A	NC_000017.11:g.40004501C>T	PSMD3-CSF3	Modifier	Abnormal white blood cell count	N/A	0
3526	rs9760319	N/A	NC_000004.12:g.137491375A>G	RPS23P2-PCDH18	Modifier	Abnormal white blood cell count	N/A	0
3531	rs9277053	N/A	NC_000006.12:g.33038445G>A	HLA-DOA-HLA-DPA1	Modifier	Abnormal platelet count	N/A	0
3541	rs7938426	N/A	NC_000011.10:g.5450602A>G	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3542	rs7948471	N/A	NC_000011.10:g.5450516G>A	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3544	rs1526083	N/A	NG_050579.1:g.9354A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3545	rs12536620	N/A	NG_050579.1:g.44506A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3139	rs60684937	N/A	NC_000017.11:g.69422989T>C	MAP2K6	Modifier	EPO levels	NG_029437.1	0
3143	rs4644 (+191 (CCT>CAT) [Pro>His])	N/A	NG_017089.1:g.14001C>A	LGALS3	Modifier	Recurrent respiratory infections	NG_017089.1	14001
3144	rs4652 (+292 ACT>CCT [Thr>Pro])	N/A	NG_017089.1:g.14102A>C	LGALS3	Modifier	Vaso-occlusive crisis, Recurrent respiratory infections	NG_017089.1	14102
3145	rs1984112	N/A	NG_008192.1:g.16417A>G	CD36	Modifier	Vaso-occlusive crisis, Reticulocytosis	NG_008192.1	16417
3146	rs1800587	N/A	NG_008850.1:g.5012C>T	ILA1	Modifier	Pain	NG_008850.1	5012
3150	rs6466533	N/A	NG_011487.1:g.294999A>G	MAGI2	Modifier	Hb F levels	NG_011487.1	294999
3153	rs6590706	N/A	NG_012107.1:g.72498C>T	OPCML	Modifier	Hb F levels	NG_012107.1	72498
3157	rs45496295	N/A	NG_009617.1:g.6420G>A	CEBPE	Modifier	Anaemia	NG_009617.1	6420
3172	rs4527238	N/A	NG_012649.1:g.84516T>C	ANTXR1	Modifier	Hb F levels	NG_012649.1	84516
3263	rs35685045	N/A	NG_012649.1:g.90541C>T	ANTXR1	Modifier	Hb F levels	NG_012649.1	90541
3176	rs9496646	N/A	NG_027676.1:g.16974T>C	FUCA2	Modifier	Left ventricular diastolic dysfunction	NG_027676.1	16974
3178	rs2010963 (-634G/C)	N/A	NG_008732.1:g.5398C>G	VEGFA	Modifier	Vaso-occlusive crisis	NG_008732.1	5398
3179	rs833068 (G398A)	N/A	NG_008732.1:g.9575G>A	VEGFA	Modifier	Vaso-occlusive crisis	NG_008732.1	9575
3339	rs2146323	N/A	NG_008732.1:g.12143C>A	VEGFA	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_008732.1	12143
3338	rs3024997	N/A	NG_008732.1:g.12155G>A	VEGFA	Modifier	Hb F levels	NG_008732.1	12155
3177	rs3025020	N/A	NG_008732.1:g.16158C>T	VEGFA	Modifier	Vaso-occlusive crisis	NG_008732.1	16158
3182	rs113267280	N/A	NG_041939.1:g.69122A>C	CCND3	Modifier	Anaemia	NG_041939.1	69122
3493	rs3218108	N/A	NG_041939.1:g.118978G>A	CCND3	Modifier	Abnormal red blood cell count	NG_041939.1	118978
3186	rs183437571	N/A	NG_032925.2:g.20316C>T	NFIX	Modifier	Hb F levels	NG_032925.2	20316
3193	rs148706947	N/A	NG_012267.1:g.65247G>A	AXIN1	Modifier	Anaemia	NG_012267.1	65247
3580	rs1050828	N/A	NG_009015.2:g.16571G>A	G6PD	Modifier	Stroke	NG_009015.2	16571
3581	rs1050829	N/A	NG_009015.2:g.17296A>T \| NG_009015.2:g.17296A>G	G6PD	Modifier	Stroke	NG_009015.2	17296
3195	rs5030868	N/A	NG_009015.2:g.18154C>T	G6PD	Modifier	Anaemia	NG_009015.2	18154
3207	rs76056952	N/A	NG_033236.1:g.77856G>C	PKD1L2	Modifier	Abnormal GFR	NG_033236.1	77856
3208	rs114990094	N/A	NG_030463.1:g.8143C>T	TOR2A	Modifier	Abnormal GFR	NG_030463.1	8143
3209	rs72765108	N/A	NG_027822.1:g.11259G>T	AGGF1	Modifier	Abnormal GFR	NG_027822.1	11259
3211	rs12094024	N/A	NG_007939.1:g.21183A>C	CYP4B1	Modifier	Abnormal GFR	NG_007939.1	21183
3212	rs61729510	N/A	NG_029826.1:g.21020G>A	CD163	Modifier	Abnormal GFR	NG_029826.1	21020
3585	rs980112	N/A	NG_033271.1:g.7618G>A	KLF10	Modifier	Hb F levels	NG_033271.1	7618
3550	rs3191333	N/A	NG_033271.1:g.10912C>T	KLF10	Modifier	Hb F levels, Response to hydroxyurea	NG_033271.1	10912
3213	rs764833434 (R218Q)	N/A	NG_030361.1:g.7406G>A	SP1	Modifier	Hb F levels	NG_030361.1	7406
3219	rs557939075	N/A	NG_009929.2:g.459084_459085insA	LARGE1	Modifier	Hb F levels	NG_009929.2	459084
3221	rs13080125	N/A	NG_009227.1:g.82390T>C	PAK2	Modifier	Hb F levels	NG_009227.1	82390
3245	rs4696480	N/A	NG_016229.1:g.6686T>A	TLR2	Modifier	Recurrent respiratory infections	NG_016229.1	6686
3254	rs5742909 (-318 C/T)	N/A	NG_011502.1:g.4839C>T	CTLA4	Modifier	Red blood cell alloimmunisation	NG_011502.1	4839
3257	rs231841	N/A	NG_008935.1:g.262384G>T	KCNQ1	Modifier	Anaemia	NG_008935.1	262384
3259	rs2333227 (-463G>A)	N/A	NG_009629.1:g.4535G>A	MPO	Modifier	Recurrent infections	NG_009629.1	4535
3551	FCGR2C.nc-ORF	N/A	NG_011982.1:g.[13259C>T;19253A>G]	FCGR2C	Modifier	Red blood cell alloimmunisation	NG_011982.1	13259, 19253
3303	rs4274224	N/A	NG_008841.1:g.31550C>T	DRD2	Modifier	Vaso-occlusive crisis	NG_008841.1	31550
3328	rs165599	N/A	NC_000022.11:g.19969258G>A	COMT	Modifier	Pain	NG_011526.1	32519
3348	rs73599293	N/A	NG_008678.1:g.625121A>G	LAMA2	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_008678.1	625121
2677	rs1319868	N/A	NC_000015.10:g.98643750G>T	IGF1R	Modifier	Bacteremia	NG_046911.1	0
3351	rs2271725	N/A	NG_046911.1:g.119852C>A	ITGA11	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_046911.1	119852
3355	rs34544747	N/A	NG_008318.1:g.14743G>T	MAN2B1	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_008318.1	14743
3349	rs920829	N/A	NG_033890.1:g.15117G>A	TRPA1	Modifier	Pain	NG_033890.1	15117
3352	rs951781	N/A	NG_012300.1:g.10653G>A	NES	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_012300.1	10653
3438	rs12568784	N/A	NC_000001.11:g.152350656G>T	FLG2	Modifier	Leg ulcers	NM_001014342.2	7130
3447	rs35108810	N/A	NC_000013.11:g.32443800T>A	N4BP2L2	Modifier	Hb F response to hydroxyurea	NM_033111.4	0
3448	rs16955011	N/A	NC_000013.11:g.98176963C>T	RNF113B	Modifier	Hb F response to hydroxyurea	NM_178861.5	0
3449	rs55904231	N/A	NC_000007.14:g.2239684G>A	MRM2	Modifier	Hb F response to hydroxyurea	NM_013393.3	0
3450	rs28626308	N/A	NC_000019.10:g.33026609C>T	RHPN2	Modifier	Hb F response to hydroxyurea	NM_033103.5	0
3451	rs17843865	N/A	NG_011844.2:g.38134A>G	ADAR	Modifier	Hb F response to hydroxyurea	NG_011844.2	38134
3452	rs61750777	N/A	NG_051819.1:g.5672C>T	RSPH3	Modifier	Hb F response to hydroxyurea	NG_051819.1	5672
3453	rs11053646	N/A	NG_016743.1:g.16343G>C	OLR1	Modifier	Hb F response to hydroxyurea	NG_016743.1	16343
3454	rs11819496	N/A	NC_000010.11:g.100499576C>G	SEC31B	Modifier	Hb F response to hydroxyurea	NM_015490.4	0
3455	rs34510432	N/A	NC_000019.10:g.18911007C>T	COPE	Modifier	Hb F response to hydroxyurea	NM_001330469.2	0
3456	rs6967330	N/A	NC_000007.14:g.106018005G>A	CDHR3	Modifier	Hb F response to hydroxyurea	NM_152750.5	0
3457	rs3770655	N/A	NC_000002.12:g.67404993C>T	ETAA1	Modifier	Hb F response to hydroxyurea	NM_019002.4	0
3458	rs113596156	N/A	NC_000001.11:g.1179319G>A	TTLL10	Modifier	Hb F response to hydroxyurea	NM_001130045.2	0
3459	rs869801	N/A	NG_033919.2:g.546967G>A	DOCK1	Modifier	Hb F response to hydroxyurea	NG_033919.2	546967
3460	rs899441	N/A	NG_047119.1:g.14532A>G	MYBBP1A	Modifier	Hb F response to hydroxyurea	NG_047119.1	14532
3461	rs116835087	N/A	NC_000017.11:g.62736109C>T	MARCHF10	Modifier	Hb F response to hydroxyurea	NM_001288779.2	0
3462	rs11972142	N/A	NG_052801.1:g.73041A>G	PKD1L1	Modifier	Hb F response to hydroxyurea	NG_052801.1	73041
3463	rs16859886	N/A	NG_016139.1:g.22583C>T	ADCY10	Modifier	Hb F response to hydroxyurea	NG_016139.1	22583
3466	rs10399947	N/A	NC_000001.11:g.150889484G>A	CTXND2	Modifier	Acute chest syndrome	NR_148929.1	0
3467	rs34661029	N/A	NC_000002.12:g.60921853C>G	REL	Modifier	Acute chest syndrome	NM_002908.4	0
3468	rs17749316	N/A	NG_008294.1:g.43268G>C	STAT1	Modifier	Acute chest syndrome	NG_008294.1	43268
3469	rs13021001	N/A	NG_042235.1:g.34942T>C	GPR17	Modifier	Acute chest syndrome	NM_001161415.1	34942
3471	rs3910551	N/A	NG_029729.1:g.96079G>C	ALCAM	Modifier	Acute chest syndrome	NG_029729.1	96079
3472	rs5030094	N/A	NG_016009.1:g.31061T>C	KNG1	Modifier	Acute chest syndrome	NG_016009.1	31061
3473	rs10478813	N/A	NG_008750.1:g.47471C>G	FBN2	Modifier	Acute chest syndrome	NG_008750.1	47471
3474	rs5576	N/A	NG_016148.1:g.12545A>G	NPY	Modifier	Acute chest syndrome	NG_016148.1	12545
3476	rs6309	N/A	NG_013011.1:g.5570T>A	HTR2A	Modifier	Acute chest syndrome	NG_013011.1	5570
3478	rs12447481	N/A	NG_012969.1:g.16095T>G	FTO	Modifier	Acute chest syndrome	NG_012969.1	16095
3508	rs9933611	N/A	NG_012969.1:g.41011A>G	FTO	Modifier	Pain	NG_012969.1	41011
3480	rs16998437	N/A	NG_012857.1:g.401T>G	NOL12	Modifier	Acute chest syndrome	NM_024313.3	401
3497	rs3917296	N/A	NC_000002.12:g.102168373A>G	IL1R1	Modifier	Pain	NM_000877.4	0
3498	rs324035	N/A	NG_008842.2:g.54401T>G	DRD3	Modifier	Pain	NG_008842.2	54401
3499	rs10513478	N/A	NC_000003.12:g.155522876C>T	PLCH1	Modifier	Pain	NM_001130960.2	0
3500	rs11732673	N/A	NC_000004.12:g.2681328A>G	FAM193A	Modifier	Pain	NM_003704.3	0
3501	rs6858735	N/A	NC_000004.12:g.37914606C>T	TBC1D1	Modifier	Pain	NM_015173.4	0
3502	rs13113915	N/A	NC_000004.12:g.186544810G>A	MTNR1A	Modifier	Pain	NM_005958.4	0
3503	rs10942625	N/A	NG_007083.2:g.590532G>A	ADGRV1	Modifier	Pain	NG_007083.2	590532
3504	rs1851426	N/A	NG_008421.1:g.3873T>C	CYP3A4	Modifier	Pain	NG_008421.1	3873
3505	rs7034457	N/A	NG_029445.1:g.117539A>G	PCSK5	Modifier	Pain	NG_029445.1	117539
3506	rs7899453	N/A	NG_012633.1:g.11442C>A	RPS24	Modifier	Pain	NG_012633.1	11442
3507	rs11817401	N/A	NG_029120.1:g.95564G>A	SORCS1	Modifier	Pain	NG_029120.1	95564
3509	rs17101814	N/A	NC_000011.10:g.103991948	PDGFD	Modifier	Pain	NM_033135.4	0
3510	rs445683	N/A	NC_000017.11:g.76405440C>T	UBE2O	Modifier	Pain	NM_022066.4	0
3511	rs7507634	N/A	NC_000019.10:g.10325886C>T	RAVER1	Modifier	Pain	NM_133452.3	0
3512	rs2872817	N/A	NG_028264.1:g.39392A>G	TKTL1	Modifier	Pain	NG_028264.1	39392
3515	rs8176743	N/A	NG_006669.2:g.24188G>A	ABO	Modifier	Abnormal red blood cell count	NG_006669.2	24188
3516	rs2218660	N/A	NC_000002.12:g.46120653T>G	PRKCE	Modifier	Abnormal Hb, Abnormal haematocrit, Abnormal red blood cell count	NM_005400.3	0
3517	rs11153167	N/A	NC_000006.12:g.109301379A>T	CCDC162P	Modifier	Abnormal red blood cell count	NR_152435.1	0
3518	rs2523554	N/A	NG_001113.6:g.3014G>A	DHFRP2	Modifier	Abnormal Hb	NG_001113.6	3014
3521	rs10936603	N/A	NC_000003.12:g.169827864G>T	LRRIQ4	Modifier	Abnormal white blood cell count	NM_001080460.2	0
3522	rs11981340	N/A	NG_015888.1:g.155282A>G	CDK6	Modifier	Abnormal white blood cell count	NG_015888.1	155282
3525	rs3729569	N/A	NG_008958.1:g.35707C>A	MCM6	Modifier	Abnormal white blood cell count	NG_008958.1	35707
3527	rs1977081	N/A	NG_008631.1:g.15510T>C	PNPLA3	Modifier	Abnormal platelet count	NG_008631.1	15510
3528	rs739496	N/A	NG_021216.1:g.48908A>G	SH2B3	Modifier	Abnormal platelet count	NG_021216.1	48908
3529	rs9469032	N/A	NC_000006.12:g.31677649C>G	LY6G5C	Modifier	Abnormal platelet count	NM_025262.3	0
3530	rs13091574	N/A	NG_012136.1:g.8828T>G	THPO	Modifier	Abnormal platelet count	NG_012136.1	8828
3535	rs56381518	N/A	NC_000010.11:g.70170483A>C \| NC_000010.11:g.70170483A>G \| NC_000010.11:g.70170483A>T	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3536	rs1479076497	N/A	NC_000010.11:g.70151278_70151284del	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3537	rs1180306451	N/A	NC_000010.11:g.70151277_70151284del	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3538	rs2394643	N/A	NC_000010.11:g.70151258C>A \| NC_000010.11:g.70151258C>T	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
4047	rs1470556171	N/A	NC_000010.11:g.70151281A>C	SAR1A	Modifier	Hb F levels	NM_001142648.2
4048	rs1046747	N/A	NC_000010.11:g.70150874G>A	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
4049	rs80028936	N/A	NC_000010.11:g.70151213GT[1] \| NC_000010.11:g.70151213GT[3]	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
2917	rs2310991	N/A	NC_000010.11:g.70171890C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
2918	rs4282891	N/A	NC_000010.11:g.70170313A>G	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3532	rs56291099	N/A	NC_000010.11:g.70171322G>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3533	rs56303718	N/A	NC_000010.11:g.70170898C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3534	rs55890525	N/A	NC_000010.11:g.70171015C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3539	rs115340990	N/A	NC_000010.11:g.70151008A>G	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2	0
3540	rs1482813291	N/A	NC_000010.11:g.70151276_70151284del	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2	0
3706	rs1160065459	N/A	NC_000019.10:g.10148923G>A	DNMT1	Modifier	Hb F levels	NG_028016.3	87364
3584	rs2236599	N/A	NC_000009.12:g.107487224C>T	KLF4	Modifier	Hb F response to hydroxyurea	NM_004235.6
3592	rs9324918	N/A	NG_009062.1:g.52918A>G	NR3C1	Modifier	Pain	NG_009062.1	52918
3591	rs2963155	N/A	NG_009062.1:g.64074T>C	NR3C1	Modifier	Pain	NG_009062.1	64074
3590	rs33389	N/A	NG_009062.1:g.119579G>A	NR3C1	Modifier	Pain	NG_009062.1	119579
3618	rs9722	N/A	NC_000021.9:g.46599326G>A	S100B	Modifier	Pain	NM_006272.3
3619	rs1051169	N/A	NC_000021.9:g.46602317C>G	S100B	Modifier	Pain	NM_006272.3
3620	rs9983698	N/A	NC_000021.9:g.46598630C>T	S100B	Modifier	Pain	NM_006272.3
3621	rs11911834	N/A	NC_000021.9:g.46602608G>T	S100B	Modifier	Pain	NM_006272.3
3625	rs2154586	N/A	NC_000021.9:g.46603603G>A	S100B	Modifier	Osteonecrosis/Avascular necrosis	NM_006272.3
3638	rs1318772	N/A	NG_012265.1:g.105961T>C	MCC	Modifier	F-cell numbers	NG_012265.1	105961
3640	rs3800569	N/A	NC_000007.14:g.138726680C>T	ATP6V0A4	Modifier	F-cell numbers	NG_008145.1	76517
3642	rs2279638	N/A	NC_000001.11:g.220828445G>A	LINC01352	Modifier	F-cell numbers	NR_110797.1
3646	rs11071959	N/A	NG_029143.1:g.228883A>G	MAP2K5	Modifier	F-cell numbers	NG_029143.1	228883
3647	rs3850229	N/A	NC_000006.12:g.147857222G>A	SAMD5	Modifier	F-cell numbers	NM_001030060.3
3649	rs140518	N/A	NC_000022.11:g.50560753C>T	SYCE3	Modifier	F-cell numbers	NM_001123225.3
3650	rs10510789	N/A	NC_000003.12:g.56843760C>T	ARHGEF3	Modifier	F-cell numbers	NM_019555.3
3656	rs2298720	N/A	NG_011775.4:g.48426G>A	SLC14A1	Modifier	Response to hydroxyurea	NG_011775.4	48426
3655	rs1001179	N/A	NG_013339.2:g.4760C>T	CAT	Modifier	Response to hydroxyurea	NG_013339.2	4760
3654	rs7943316	N/A	NG_013339.2:g.5001A>T	CAT	Modifier	Response to hydroxyurea	NG_013339.2	5001
3661	rs7032759	N/A	NC_000009.12:g.131960810T>C	MED27	Modifier	F-cell numbers	NM_004269.4
3665	rs2113120	N/A	NC_000016.10:g.78654247T>C	WWOX	Modifier	F-cell numbers	NG_011698.1	559594
3667	rs757369	N/A	NC_000014.9:g.68506829A>G	RAD51B	Modifier	F-cell numbers	NG_023267.2	692051
3668	rs12412148	N/A	NG_033998.1:g.90878C>T	SVIL	Modifier	F-cell numbers	NG_033998.1	90878
3701	rs9380142	N/A	NG_029039.1:g.9039A>G	HLA-G	Modifier	Gallstones	NG_029039.1	9039
3702	rs2246809	N/A	NC_000012.12:g.10404445A>G	KLRC4-KLRK1	Modifier	Retinopathy	NM_001199805.1
3703	rs2617160	N/A	NC_000012.12:g.10392998A>T	KLRC4-KLRK1	Modifier	Retinopathy	NM_001199805.1
3704	rs2617169	N/A	NC_000012.12:g.10408225T>A	KLRC4-KLRK1	Modifier	Retinopathy	NM_001199805.1
3707	rs56737264	N/A	NC_000002.12:g.15094029A>G	NBAS	Modifier	Red blood cell alloimmunisation	NG_032964.1
3708	rs67088901	N/A	NC_000002.12:g.15102159G>A	NBAS	Modifier	Red blood cell alloimmunisation	NG_032964.1
3709	rs75853687	N/A	NC_000005.10:g.159850278G>A	LINC01847	Modifier	Red blood cell alloimmunisation	NR_109891.1
3741	rs12275279	N/A	NC_000011.10:g.72726251C>A	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3742	rs7123876	N/A	NC_000011.10:g.72733538T>C	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3743	rs12289259	N/A	NC_000011.10:g.72735686A>C \| NC_000011.10:g.72735686A>G	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3744	rs12272109	N/A	NC_000011.10:g.72742805G>A	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3746	rs7122044	N/A	NC_000011.10:g.72751589A>G	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3807	rs483850	N/A	NC_000001.11:g.206916626T>A	FCMR	Modifier	Severity	NM_005449.5
3808	rs934956	N/A	NC_000002.12:g.104480671G>A	LINC01102	Modifier	Severity	NR_015399.1
3809	rs370898	N/A	NC_000003.12:g.21426209C>A	ZNF385D	Modifier	Severity	NM_024697.3
3827	rs10837774	N/A	NC_000011.10:g.5302158G>A	OR51B4	Modifier	Severity	NM_033179.2
3836	rs545537	N/A	NC_000006.12:g.117323878C>T	ROS1	Modifier	Severity	NG_033929.1	106978
3837	rs678343	N/A	NC_000011.10:g.65204160G>C	CAPN1	Modifier	Severity	NG_052817.1
3838	rs638135	N/A	NC_000011.10:g.86474646A>G	ME3	Modifier	Severity	NM_006680.3
3839	rs632538	N/A	NC_000011.10:g.86480651C>T	ME3	Modifier	Severity	NM_006680.3
3840	rs593753	N/A	NC_000011.10:g.72980395T>C	FCHSD2	Modifier	Severity	NM_014824.3
3893	rs9533156	N/A	NC_000013.11:g.42573535T>C	RANKL	Modifier	Reduced bone mineral density	NG_008990.1	15800
3895	rs2073617	N/A	NC_000008.11:g.118952044G>A	OPG	Modifier	Reduced bone mineral density	NG_012202.1	5101
3894	rs2073618	N/A	NC_000008.11:g.118951813G>C	OPG	Modifier	Reduced bone mineral density	NG_012202.1	5332
3900	rs113276800	N/A	NC_000002.12:g.181457493C>A	ITGA4	Modifier	Stroke	NG_050623.1	5602
3899	rs3770138	N/A	NC_000002.12:g.181461180C>T	ITGA4	Modifier	Stroke	NG_050623.1	9289
3901	rs77635018	N/A	NC_000006.12:g.43846990C>A \| NC_000006.12:g.43846990C>G \| NC_000006.12:g.43846990C>T	LINC02537	Modifier	Priapism	NR_149142.1
3902	rs116116525	N/A	NC_000006.12:g.43848086A>G \| NC_000006.12:g.43848086A>T	LINC02537	Modifier	Priapism	NR_149142.1
3903	rs60503510	N/A	NC_000006.12:g.43849865C>T	LINC02537	Modifier	Priapism	NR_149142.1
3904	rs190103771	N/A	NC_000003.12:g.175698311A>G	NAALADL2	Modifier	Priapism	NM_207015.3
3906	rs6930487	N/A	NC_000006.12:g.143540230G>A	PHACTR2	Modifier	Stroke	NM_001100164.2
3907	rs1557759	N/A	NC_000005.10:g.130208414A>G	CHSY3	Modifier	Stroke	NM_175856.5
3910	rs2250806	N/A	NC_000001.11:g.84130407A>G	PRKACB	Modifier	Stroke	NG_029728.1
3921	rs964184	N/A	NC_000011.10:g.116778201G>C	ZPR1	Modifier	N/A	NM_003904.5
3978	rs772591609 (p.Arg7Ter)	N/A	NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T	GATAD2A	Modifier	Hb F levels	NM_001384528.1
4000	rs2238104	N/A	NC_000012.12:g.6078499G>T	VWF	Modifier	Proteinuria	NG_009072.2	51172
4001	rs3743057 (NP_055087.2:p.Val248=)	N/A	NC_000015.10:g.78796665T>C	ADAMTS7	Modifier	Proteinuria	NG_011492.1	19767
4002	rs1968911	N/A	NC_000002.12:g.140335313A>G	LRP1B	Modifier	Abnormal GFR	NG_051023.1	1802151
4051	rs1563408	N/A	NC_000007.14:g.114663134G>A	FOXP2	Modifier	Severity	NG_007491.3
4052	rs903047	N/A	NC_000003.12:g.131033165A>G	NEK11	Modifier	Severity	NG_029225.1
4054	rs950310	N/A	NC_000004.12:g.9841226T>A	SLC2A9	Modifier	Severity	NG_011540.2
4055	rs258824	N/A	NC_000005.10:g.143217725C>T	ARHGAP26	Modifier	Severity	NG_016711.2

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