DisGeNET - a database of gene-disease associations

List of associated variants

Hyperinsulinemic hypoglycemia, familial, 2, C2931833

Source: CLINVAR ×

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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
rs267607196	KCNJ11	0.827	0.160	11	17387248	missense variant	C/T	snv	2.4E-05	2.8E-05	5
rs587783669	KCNJ11	0.882	0.160	11	17387594	stop gained	G/C;T	snv			4
rs151344623	ABCC8	0.882	0.120	11	17397055	missense variant	C/G;T	snv	3.3E-04		3
rs72559716	ABCC8	0.882	0.120	11	17395172	missense variant	C/T	snv	2.2E-05	7.0E-06	3
rs1337406718	KCNJ11	0.882	0.160	11	17387027	frameshift variant	-/A	delins			3
rs1371185696	KCNJ11	0.882	0.160	11	17387532	missense variant	G/A	snv		7.0E-06	3
rs1554901690	KCNJ11	0.882	0.160	11	17387320	frameshift variant	-/GATGATC	delins			3
rs1554901718	KCNJ11	0.882	0.160	11	17387373	frameshift variant	-/T	delins			3
rs1554901829	KCNJ11	0.882	0.160	11	17387726	frameshift variant	AAGG/-	delins			3
rs1554901854	KCNJ11	0.882	0.160	11	17387801	frameshift variant	-/T	delins			3
rs74339576	KCNJ11	0.882	0.160	11	17387190	missense variant	C/A;T	snv	4.0E-06; 1.2E-05		3
rs954727530	KCNJ11	0.882	0.160	11	17387992	missense variant	G/A;C	snv	4.0E-06		3
rs1057516281	ABCC8	0.925	0.120	11	17398344	stop gained	G/A	snv		1.4E-05	2
rs137852676	ABCC8	0.882	0.160	11	17395852	stop gained	C/A;T	snv	1.5E-05		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
rs28936371	ABCC8	0.925	0.120	11	17394334	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs541269678	ABCC8	0.925	0.120	11	17407417	stop gained	G/A	snv	1.6E-05	7.0E-06	2
rs72559713	ABCC8	0.925	0.120	11	17393109	missense variant	A/G	snv	1.2E-05	7.0E-06	2
rs780957825	KCNJ11	0.827	0.160	11	17387211	missense variant	G/A;C	snv	2.0E-05		2
rs1382448285	ABCC8	1.000	0.120	11	17410517	stop gained	C/T	snv	4.0E-06		1
rs149331388	ABCC8	1.000	0.120	11	17396984	missense variant	C/T	snv	4.0E-06	2.8E-05	1
rs1564890766	ABCC8	1.000	0.120	11	17405547	missense variant	G/C	snv			1