IthaGenes

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Showing all entries involving gene BCL11A (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	F-cell numbers, Hb F levels	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	F-cell numbers, Hb F levels	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	F-cell numbers, Hb F levels	NG_011968.1	63594
2067	rs7557939	N/A	NG_011968.1:g.64287C>T	BCL11A	Modifier	Anaemia, Hb F levels, Pain	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	Pain, Hb F levels, Anaemia	NG_011968.1	65388
2072	rs766432	N/A	NG_011968.1:g.65664G>T	BCL11A	Modifier	Hb F response to hydroxyurea, F-cell numbers, Response to hydroxyurea, Pain, Hb F levels	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	F-cell numbers, Bilirubin levels, Abnormal platelet count, Abnormal white blood cell count, Reticulocytosis, Hb F levels, Reticulocytopenia, Pain, Stroke, Hb F response to hydroxyurea, Anaemia, Vaso-occlusive crisis	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	F-cell numbers, Hb F levels, 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

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