DisGeNET - a database of gene-disease associations

List of associated variants

Beta thalassemia intermedia, C0472767

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs34598529	HBB	0.724	0.280	11	5227100	5 prime UTR variant	T/C	snv		8.9E-04	14
rs11886868	BCL11A	0.752	0.280	2	60493111	intron variant	C/T	snv		0.65	12
rs33941377	HBB	0.752	0.080	11	5227158	5 prime UTR variant	G/A;C;T	snv			12
rs33944208	HBB	0.752	0.080	11	5227159	5 prime UTR variant	G/A;C;T	snv			12
rs4895441	LOC105378010	0.925	0.080	6	135105435	upstream gene variant	A/G	snv		0.21	10
rs33913413	HBB	0.851	0.080	11	5225729	splice region variant	G/A;C;T	snv	1.2E-05; 4.0E-06		4
rs33978907	HBB	0.851	0.080	11	5225488	3 prime UTR variant	A/G;T	snv			4
rs7482144	HBG2	0.882	0.280	11	5254939	3 prime UTR variant	G/A	snv			4
rs34999973	HBB	0.882	0.080	11	5227161	5 prime UTR variant	G/A;C	snv		4.2E-05	3
rs36015961	HBB	0.925	0.080	11	5225698	missense variant	A/G	snv			3