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
rs193922402	ABCC8	0.807	0.160	11	17395611	stop gained	G/A	snv	1.3E-05	7.0E-06	6
rs72559722	ABCC8	0.807	0.160	11	17412716	stop gained	G/A	snv	6.1E-05	2.1E-05	6
rs72559734	ABCC8	0.807	0.160	11	17474955	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		6
rs1554948310	ABCC8	0.827	0.160	11	17474884	splice donor variant	A/G	snv			5
rs72559715	ABCC8	0.827	0.160	11	17394379	missense variant	C/T	snv		7.0E-06	5
rs137852673	ABCC8	0.851	0.120	11	17395915	missense variant	G/A;T	snv	5.0E-06; 2.0E-05		3
rs137852676	ABCC8	0.882	0.160	11	17395852	stop gained	C/A;T	snv	1.5E-05		2
rs193922408	ABCC8	0.925	0.120	11	17393122	missense variant	C/T	snv			2
rs80356637	ABCC8	0.851	0.240	11	17470119	missense variant	A/C;G	snv			2
rs1048095	ABCC8	1.000	0.080	11	17461731	missense variant	A/G	snv			1
rs1554904936	ABCC8	1.000	0.080	11	17395652	missense variant	G/C	snv			1
rs1554909277	ABCC8	1.000	0.080	11	17402718	missense variant	G/A	snv			1
rs193929360	ABCC8	1.000	0.080	11	17474919	missense variant	A/C;G	snv			1
rs193929364	ABCC8	1.000	0.080	11	17470109	missense variant	A/G	snv			1
rs193929366	ABCC8	1.000	0.080	11	17461774	missense variant	G/T	snv			1
rs193929369	ABCC8	1.000	0.080	11	17404515	missense variant	G/T	snv			1
rs267606623	ABCC8	1.000	0.080	11	17476643	missense variant	G/A	snv		7.0E-06	1
rs80356634	ABCC8	1.000	0.080	11	17474961	missense variant	T/C	snv			1
rs80356640	ABCC8	1.000	0.080	11	17461778	missense variant	G/A;T	snv	3.2E-05		1
rs80356642	ABCC8	1.000	0.080	11	17461767	missense variant	A/C	snv			1
rs80356651	ABCC8	1.000	0.080	11	17453151	missense variant	C/T	snv			1
rs80356653	ABCC8	1.000	0.080	11	17395647	missense variant	T/C	snv			1