IthaGenes

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Showing all entries in chromosome 2 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
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
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
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
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
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
2767	rs3768780	N/A	NC_000002.12:g.186613773A>G	ITGAV	Modifier	Priapism	N/A
2880	rs888082	N/A	NC_000002.12:g.60402474G>A	LOC102724142	Modifier	Hb F levels	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
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
3643	rs2577720	N/A	NC_000002.12:g.23325743A>C	LOC107985792-KLHL29	Modifier	F-cell numbers	N/A
3146	rs1800587	N/A	NG_008850.1:g.5012C>T	ILA1	Modifier	Pain	NG_008850.1	5012
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
3254	rs5742909 (-318 C/T)	N/A	NG_011502.1:g.4839C>T	CTLA4	Modifier	Red blood cell alloimmunisation	NG_011502.1	4839
3457	rs3770655	N/A	NC_000002.12:g.67404993C>T	ETAA1	Modifier	Hb F response to hydroxyurea	NM_019002.4	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
3497	rs3917296	N/A	NC_000002.12:g.102168373A>G	IL1R1	Modifier	Pain	NM_000877.4	0
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
3525	rs3729569	N/A	NG_008958.1:g.35707C>A	MCM6	Modifier	Abnormal white blood cell count	NG_008958.1	35707
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
3808	rs934956	N/A	NC_000002.12:g.104480671G>A	LINC01102	Modifier	Severity	NR_015399.1
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
4002	rs1968911	N/A	NC_000002.12:g.140335313A>G	LRP1B	Modifier	Abnormal GFR	NG_051023.1	1802151

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