DisGeNET - a database of gene-disease associations

List of associated variants

beta^+^ Thalassemia, C3841475

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
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
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
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
rs769217	CAT	0.742	0.440	11	34461361	synonymous variant	C/T	snv	0.25	0.22	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
rs11549407	HBB	0.752	0.080	11	5226774	stop gained	G/A;C;T	snv	3.3E-04		11
rs33915217	HBB	0.752	0.080	11	5226925	splice region variant	C/A;G;T	snv	4.0E-06; 5.9E-04; 4.0E-06		11
rs33986703	HBB	0.752	0.080	11	5226970	stop gained	T/A;C;G	snv	5.6E-05; 3.2E-05		11
rs35004220	HBB	0.752	0.080	11	5226820	non coding transcript exon variant	C/T	snv	1.6E-04	9.1E-05	11
rs34690599	HBB	0.763	0.080	11	5225832	intron variant	G/C	snv		2.8E-05	10
rs35724775	HBB	0.763	0.080	11	5226924	splice region variant	A/G;T	snv	1.2E-04		10
rs104894809	GATA1	0.790	0.120	X	48792371	missense variant	G/A	snv		9.5E-06	9
rs104894815	GATA1	0.776	0.120	X	48792337	missense variant	G/A	snv			9
rs33950507	HBB	0.807	0.080	11	5226943	stop gained	C/A;G;T	snv	2.5E-04		8
rs33931746	HBB	0.807	0.280	11	5227099	5 prime UTR variant	T/C;G	snv			6
rs35256489	HBB	0.827	0.080	11	5225710	missense variant	A/G	snv	4.0E-06	2.1E-05	6
rs35424040	HBB	0.827	0.080	11	5226940	missense variant	C/A;G;T	snv	1.2E-05		6
rs766814208	ENTPD1-AS1 ; ENTPD1	0.851	0.120	10	95823259	synonymous variant	C/T	snv	1.6E-05	2.8E-05	5
rs33980857	HBB	0.827	0.280	11	5227101	5 prime UTR variant	A/C;G;T	snv			5
rs33981098	HBB	0.827	0.280	11	5227102	5 prime UTR variant	T/C;G	snv			5