IthaGenes

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Showing all entries in chromosome 6 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
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
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
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
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
2909	rs11969912 (hcv1860621)	N/A	NG_008107.1:g.149950C>T	F13A1	Modifier	Priapism	NG_008107.1	149950
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
2668	rs1800629 (–308G>A)	N/A	NG_007462.1:g.4682G>A	TNF	Modifier	Stroke, Decreased serum ferritin	NG_007462.1	4682
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
2920	rs17599586	N/A	NG_007086.2:g.15355C>T	ARG1	Modifier	Hb F response to hydroxyurea	NG_007086.2	15355
2931	rs1044498 (K173Q)	N/A	NG_008206.1:g.48213A>C	ENPP1	Modifier	Stroke	NG_008206.1	48213
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
3129	rs2273668	N/A	NG_029518.1:g.97190C>A	SESN1	Modifier	Hb F response to hydroxyurea	NG_029518.1	97190
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
2771	rs267192	N/A	NC_000006.12:g.7845011C>T	BMP6	Modifier	Pulmonary arterial hypertension	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
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
3347	rs10499052	N/A	NC_000006.12:g.109564272G>A	AK9	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	N/A
3637	rs11968814	N/A	NC_000006.12:g.71067268G>A	B3GAT2-BECN1P2	Modifier	F-cell numbers	N/A
3858	rs1406811	N/A	NC_000006.12:g.135118989A>C	HBS1L-MYB	Modifier	Hb F levels	N/A
4056	rs234915	N/A	NC_000006.12:g.2209343T>G	GMDS	Modifier	Severity	N/A
3531	rs9277053	N/A	NC_000006.12:g.33038445G>A	HLA-DOA-HLA-DPA1	Modifier	Abnormal platelet count	N/A	0
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
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
3452	rs61750777	N/A	NG_051819.1:g.5672C>T	RSPH3	Modifier	Hb F response to hydroxyurea	NG_051819.1	5672
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
3529	rs9469032	N/A	NC_000006.12:g.31677649C>G	LY6G5C	Modifier	Abnormal platelet count	NM_025262.3	0
3647	rs3850229	N/A	NC_000006.12:g.147857222G>A	SAMD5	Modifier	F-cell numbers	NM_001030060.3
3701	rs9380142	N/A	NG_029039.1:g.9039A>G	HLA-G	Modifier	Gallstones	NG_029039.1	9039
3836	rs545537	N/A	NC_000006.12:g.117323878C>T	ROS1	Modifier	Severity	NG_033929.1	106978
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
3906	rs6930487	N/A	NC_000006.12:g.143540230G>A	PHACTR2	Modifier	Stroke	NM_001100164.2

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