IthaGenes

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Showing all entries with clinican phenotype Hb F levels (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3435	Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH)	N/A	N/A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3
3436	Yugoslavian non-deletional HPFH	N/A	N/A	Aγ, Gγ	Causative	HPFH, Hb F levels	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
1502	Italian 1 (HPFH-4)	N/A	N/A	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1503	Italian 2, Sicilian (HPFH-5)	N/A	NC_000011.10:g.59893_72818del	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
2497	49.98 kb (δβ)0 Indian del (HPFH-9)	N/A	NC_000011.10:g.5194285_5244267del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2498	86.7 kb (Αγδβ)0 Indian del (HPFH-10)	N/A	NC_000011.10:g.5164124_5250830delinsTG	Aγ, δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
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
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
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
1554	-567 T>G (Iranian non-deletional HPFH)	N/A	HBG2:c.-620T>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42268
3272	-533 (-ATAAG)	N/A	HBG2:c.-533_-529delATAAG	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42302
1555	-202 C>G (Black non-deletional HPFH)	N/A	HBG2:c.-255C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42633
1556	-200 +C (Tunisian non-deletional HPFH)	N/A	HBG2:c.-253dup	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42635
2300	-197 C>T	N/A	HBG2:c.-250c>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42638
1557	-196 C>T (Greek non-deletional HPFH)	N/A	HBG2:c.-249C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42639
1558	-175 T>C (Black/Sardinian/British non-deletional HPFH)	N/A	HBG2:c.-228T>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42660
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
1559	-114 C>G (Australian non-deletional HPFH)	N/A	HBG2:c.-167C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1560	-114 C>A (Algerian non-deletional HPFH)	N/A	HBG2:c.-167C>A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1561	-114 C>T (Japanese non-deletional HPFH)	N/A	HBG2:c.-167C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1562	-110 A>C (Czech non-deletional HPFH)	N/A	HBG2:c.-163A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42725
1563	-109 G>T (Greek non-deletional HPFH)	N/A	HBG2:c.-162A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42726
1564	-37 A>T (Belgian non-deletional HPFH)	N/A	HBG2:c.-90A>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42798
3162	rs1894397	N/A	NG_000007.3:g.42859G>A	Gγ	Modifier	Hb F levels	NG_000007.3	42859
2427	CD 41 TTC>CTC [Phe>Leu]	Hb F-Avellino	HBG2:c.124T>C	Gγ	Causative	γ-chain variant, Hb F levels	NG_000007.3	43133
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
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
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
2802	rs2855126	N/A	NG_000007.3:g.45699G>C	HBG1-HBG2	Modifier	Hb F levels, Hyperuricemia, Severity	NG_000007.3	45699
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
3920	-368 C>A	N/A	HBG1:c.-420C>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47391
1565	-211 C>T (Venezuelan non-deletional HPFH)	N/A	HBG1:c.-264C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47548
1566	-202 C>T (Black non-deletional HPFH)	N/A	HBG1:c.-255C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47557
1567	-201 C>T (Greek non-deletional HPFH)	N/A	HBG1:c.-254C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47558
1568	-198 T>C (British non-deletional HPFH)	N/A	HBG1:c.-251T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47561
2301	-197 C>T	N/A	HBG1:c.-250C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47562
1569	-196 C>T (Italian/Chinese non-deletional HPFH)	N/A	HBG1:c.-249C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47563
1570	-195 C>G (Brazilian non-deletional HPFH)	N/A	HBG1:c.-248C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47564
1571	-175 T>C (Black non-deletional HPFH)	N/A	HBG1:c.-228T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47584
1572	-158 C>T (Cretan non-deletional HPFH)	N/A	HBG1:c.-211C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47601
1573	-117 G>A (Greek/Italian/Black non-deletional HPFH)	N/A	HBG1:c.-170G>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47642
1574	-114 to -102 (13 bp deletion , Black non-deletional HPFH)	N/A	HBG1:c.-167_-155delCAATAGCCTTGAC	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
1575	-114 C>T (Georgian non-deletional HPFH)	N/A	HBG1:c.-167C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
3025	-114 C>G (African-American/Hispanic non-deletional HPFH)	N/A	HBG1:c.-167C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
2302	-113 A>G	N/A	HBG1:c.-166A>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47646
2945	rs368698783 (Aγ(+25 G>A))	N/A	NG_000007.3:g.47783G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47783
1498	(HPFH-7, Kenya)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, δ, β, pseudo β	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
3158	rs11036455	N/A	NG_000007.3:g.48428T>C	Aγ	Modifier	Hb F levels	NG_000007.3	48428
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
1501	Indian HPFH-3	N/A	NC_000011.10:g.5194459_5244226del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	53390
2815	rs2071348	N/A	NG_000007.3:g.54700A>C	pseudo β	Modifier	Hb F levels, Severity	NG_000007.3	54700
1500	Ghanaian (HPFH-2)	N/A	NC_000011.10:g.5158438_5242749del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	54867
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
2156	Algerian HPFH deletion	N/A	NG_000007.3:g.57141_81002del; 81008delA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57141, 81008
2155	French West-Indies deletion/insertion (French West-Indies HPFH deletion)	N/A	NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57155
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
1499	Black (HPFH-1)	N/A	NC_000011.10:g.5153222_5238138delinsAAATA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	59478
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
2154	French deletion/insertion (French HPFH deletion)	N/A	NG_000007.3:g.[61399_61400insC; 61402_81144del]	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	61402
2799	rs3813727	N/A	NG_000007.3:g.62934T>C	δ	Modifier	Hb F levels, Severity	NG_000007.3	62934
2872	rs6578588	N/A	NG_000007.3:g.66595A>G	HBB-HBD	Modifier	Hb F levels, Severity	NG_000007.3	66595
2124	Caucasian HPFH (27825 bp deletion)	N/A	NC_000011.10:g.5201455_5229279delins5223936_5223960	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68337
1505	South East Asian (SEA) deletion (Vietnamese, SE Asian, HPFH-7, SEA-HPFH, 27 kb deletion)	N/A	NC_000011.10:g.5201647_5229059del	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68557
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
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
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
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
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
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
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
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
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
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
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
2118	rs4969555	N/A	NG_016387.1:g.6517A>G	EIF2S3	Modifier	Hb F levels	NG_016387.1	6517
2134	rs2327669	N/A	NG_011994.1:g.47849C>G	PDE7B	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011994.1	47849
2143	rs380620	N/A	NG_011993.1:g.54236G>C	TOX	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011993.1	54236
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
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
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
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
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
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
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
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
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
2716	rs8038623	N/A	NG_011990.1:g.53281G>A	SMAD3	Modifier	Hb F levels	NG_011990.1	53281
2717	rs1440372	N/A	NG_012244.1:g.43478T>C	SMAD6	Modifier	Hb F levels	NG_012244.1	43478
2774	rs398655	N/A	NG_011485.1:g.2082A>C	KL	Modifier	Hb F levels	NG_011485.1	2082
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
2749	rs9527025	N/A	NG_011485.1:g.42623G>C	KL	Modifier	Hb F levels	NG_011485.1	42623
2750	rs648202	N/A	NG_011485.1:g.49893T>C	KL	Modifier	Hb F levels	NG_011485.1	49893
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
2731	rs543048	N/A	NG_011542.1:g.49539A>T	ASS1	Modifier	Hb F levels	NG_011542.1	49539
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
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
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
2627	rs4489951	N/A	NG_008305.1:g.36684G>A	MAP2K1	Modifier	Hb F levels	NG_008305.1	36684
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
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
2119	rs12103880	N/A	NC_000017.11:g.9795025G>A	DHRS7C-GLP2R	Modifier	Hb F levels, Hb F response to hydroxyurea	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
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
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
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
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
3858	rs1406811	N/A	NC_000006.12:g.135118989A>C	HBS1L-MYB	Modifier	Hb F levels	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
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
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
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
3186	rs183437571	N/A	NG_032925.2:g.20316C>T	NFIX	Modifier	Hb F levels	NG_032925.2	20316
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
4047	rs1470556171	N/A	NC_000010.11:g.70151281A>C	SAR1A	Modifier	Hb F levels	NM_001142648.2
3706	rs1160065459	N/A	NC_000019.10:g.10148923G>A	DNMT1	Modifier	Hb F levels	NG_028016.3	87364
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

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