DisGeNET - a database of gene-disease associations

List of associated variants

Hyperinsulinemic hypoglycemia, familial, 1, C2931832

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
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			10
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
rs137852676	ABCC8	0.882	0.160	11	17395852	stop gained	C/A;T	snv	1.5E-05		3
rs1446306735	ABCC8	0.882	0.120	11	17395664	missense variant	C/A;T	snv			3
rs151344623	ABCC8	0.882	0.120	11	17397055	missense variant	C/G;T	snv	3.3E-04		3
rs28938469	ABCC8	0.925	0.160	11	17395659	missense variant	G/A	snv			3
rs72559716	ABCC8	0.882	0.120	11	17395172	missense variant	C/T	snv	2.2E-05	7.0E-06	3
rs1057516281	ABCC8	0.925	0.120	11	17398344	stop gained	G/A	snv		1.4E-05	2
rs1057516317	ABCC8	0.925	0.120	11	17402737	frameshift variant	C/-	delins		2.1E-05	2
rs1057517420	ABCC8	0.925	0.120	11	17408518	splice acceptor variant	C/G	snv		7.0E-06	2
rs137852672	ABCC8	0.925	0.120	11	17463457	splice donor variant	A/T	snv	1.5E-04	2.2E-04	2
rs139964066	ABCC8	0.925	0.120	11	17402671	missense variant	G/A	snv	5.6E-05	3.5E-05	2
rs151344624	ABCC8	0.925	0.120	11	17395888	inframe deletion	AAG/-	delins			2
rs1554923999	ABCC8	0.925	0.120	11	17427048	splice donor variant	C/A;T	snv			2
rs1564977373	ABCC8	0.925	0.120	11	17461710	stop gained	C/T	snv			2
rs193922405	ABCC8	0.925	0.160	11	17394360	missense variant	C/A;T	snv			2
rs200670692	ABCC8	0.925	0.120	11	17476715	missense variant	A/T	snv	5.8E-05	3.5E-05	2
rs28936370	ABCC8	0.925	0.120	11	17396980	missense variant	C/G;T	snv	8.0E-06; 2.0E-05		2
rs28936371	ABCC8	0.925	0.120	11	17394334	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs367850779	ABCC8	0.925	0.120	11	17402670	missense variant	C/T	snv	2.4E-05	7.0E-06	2
rs387906407	ABCC8	0.925	0.120	11	17395610	missense variant	C/G;T	snv			2