DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs17789218	LOC105377911			6	100152221	intergenic variant	T/A;C	snv			3
rs9496567	LOC105377911			6	100154877	intergenic variant	G/A	snv		0.24	2
rs7955221				12	100456972	intergenic variant	A/C;T	snv			2
rs75061399	NR1H4			12	100548299	intron variant	G/A	snv		2.2E-02	1
rs221797	GIGYF1			7	100688351	5 prime UTR variant	A/C;T	snv			1
rs10185855	TBC1D8			2	101025798	intron variant	A/G	snv		0.35	4
rs17199964	BANK1			4	101786634	intron variant	G/A;C	snv			5
rs10275712	GPR146 ; C7orf50			7	1043282	intron variant	G/A	snv		0.18	1
rs2853579	ABCA1			9	104828991	synonymous variant	G/T	snv	0.20	0.23	3
rs7873387	ABCA1			9	104833321	intron variant	A/C	snv		0.20	1
rs12686004	ABCA1	1.000	0.040	9	104891145	intron variant	G/A	snv		9.1E-02	5
rs2740488	ABCA1	0.827	0.120	9	104899461	intron variant	A/C	snv		0.29	9
rs1883025	ABCA1	0.807	0.120	9	104902020	intron variant	C/T	snv		0.28	6
rs2575876	ABCA1			9	104903458	intron variant	G/A	snv		0.24	6
rs1800978	ABCA1	1.000	0.040	9	104903697	5 prime UTR variant	C/A;G;T	snv	5.4E-06; 0.14		6
rs648324	PEX14			1	10496390	intron variant	G/C;T	snv			2
rs62128801	KRI1			19	10558487	intron variant	G/A;C	snv			2
rs7821092	RP1L1			8	10651291	intron variant	G/C	snv		0.54	1
rs1730859				1	107075085	intergenic variant	G/A	snv		0.75	2
rs11671653	DNM2	1.000	0.040	19	10727810	intron variant	G/A;T	snv			1
rs2712199	COG5			7	107499794	intron variant	A/G	snv		0.29	1
rs1610095	DNM2			19	10794013	intron variant	G/A;C	snv			2
rs826681	LIMS1			2	108615619	intron variant	C/T	snv		0.17	2
rs826682	LIMS1			2	108615932	intron variant	A/C	snv		0.18	1
rs3741782	CORO1C	1.000	0.040	12	108701361	intron variant	A/G;T	snv	0.31; 4.0E-06		2