DisGeNET - a database of gene-disease associations

List of associated variants

alpha-Thalassemia, C0002312

Source: ALL

Results per page

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
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
rs4671393	BCL11A	0.790	0.400	2	60493816	intron variant	A/C;G	snv			11
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
rs33945777	HBB	0.763	0.080	11	5226576	splice donor variant	C/A;G;T	snv	4.0E-05		10
rs33971440	HBB	0.763	0.080	11	5226929	splice donor variant	C/A;T	snv	7.2E-05; 9.5E-05		10
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
rs122445108	ATRX	0.807	0.320	X	77717155	stop gained	G/A	snv			7
rs1427407	BCL11A	0.827	0.120	2	60490908	intron variant	T/C;G	snv			6
rs3783613	VCAM1	0.851	0.200	1	100731231	missense variant	G/A;C	snv	4.0E-06; 9.9E-03		6
rs33925391	HBB	0.882	0.080	11	5225662	missense variant	A/C;G;T	snv	4.0E-06		4
rs33964317	HBA1	0.925	0.080	16	176759	missense variant	T/A;C;Y	snv	1.7E-04	1.4E-05	3
rs66650371	HBS1L	0.925	0.080	6	135097495	intron variant	CTA/-;CTACTA	delins		0.19	3
rs1265843445	HBA1	0.925	0.080	16	177311	missense variant	T/G	snv	4.0E-06		2
rs28928875	HBA1	0.925	0.080	16	177056	missense variant	G/A;C	snv			2
rs281864810	HBA2	0.925	0.080	16	172955	missense variant	T/A;C	snv			2
rs281864855	HBA2	0.925	0.080	16	173246	missense variant	C/G;T	snv			2
rs41464951	HBA2	0.925	0.080	16	173598	stop lost	T/A;C;G	snv	5.6E-05		2