DisGeNET - a database of gene-disease associations

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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
rs2004776	AGT			1	230712956	intron variant	C/G;T	snv			5
rs2043082	ALDH1A2			15	58382109	intron variant	G/A	snv		0.32	5
rs6943555	AUTS2	0.882	0.080	7	70341037	intron variant	T/A	snv		0.34	5
rs1813353	CACNB2			10	18418519	intron variant	T/C	snv		0.29	5
rs2763981	CYP21A2 ; SLC44A4			6	31872244	intron variant	T/A	snv		0.79	5
rs4495740	DOCK7			1	62658794	intron variant	T/G	snv		0.34	5
rs1894400	FES			15	90885725	intron variant	C/T	snv		0.28	5
rs62033406	FTO			16	53790314	intron variant	A/G	snv		0.33	5
rs7185735	FTO	0.925	0.120	16	53788739	intron variant	A/G;T	snv			5
rs1573643	FURIN			15	90877743	intron variant	T/C	snv		0.33	5
rs2304128	GMIP			19	19635342	intron variant	G/C;T	snv			5
rs7096937	GPAM			10	112190660	intron variant	T/C	snv		0.72	5
rs11725969	GUCY1A1			4	155705436	intron variant	C/T	snv		0.24	5
rs7953257	HECTD4			12	112246417	intron variant	A/G;T	snv		0.71	5
rs12978472	INSR			19	7257979	intron variant	C/G;T	snv			5
rs11636952	LMAN1L			15	74821981	intron variant	T/C	snv		0.48	5
rs114165349	LOC101928728 ; ARID1A			1	26695422	intron variant	G/C	snv		1.7E-02	5
rs7125196	LOC105369329			11	61505093	intron variant	T/C	snv		0.16	5
rs4722551	LOC105375199			7	25952206	upstream gene variant	T/C;G	snv			5
rs4980389	LSP1			11	1871355	5 prime UTR variant	G/A	snv		0.35	5
rs7570971	RAB3GAP1	1.000	0.080	2	135080336	intron variant	C/A	snv		0.61	5
rs1799852	TF			3	133756878	synonymous variant	C/T	snv	0.13	0.11	5
rs8177240	TF			3	133758857	intron variant	T/C;G	snv		0.29	5
rs10750766				11	65706327	regulatory region variant	C/A	snv		0.60	4
rs11967262				6	43792590	intergenic variant	C/G	snv		0.41	4