DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Hyperinsulinism, C3888018

Source: CLINVAR ×

Results per page

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
rs72559734	ABCC8	0.807	0.160	11	17474955	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		6
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
rs1568731279	HNF4A	0.925	0.160	20	44414506	splice acceptor variant	G/A	snv			3
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
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
rs200670692	ABCC8	0.925	0.120	11	17476715	missense variant	A/T	snv	5.8E-05	3.5E-05	2
rs863225280	ABCC8	0.925	0.120	11	17461722	missense variant	C/T	snv			2
rs121917757	HRAS ; LRRC56	0.851	0.200	11	534259	stop gained	G/A;T	snv	1.2E-05		2
rs780957825	KCNJ11	0.827	0.160	11	17387211	missense variant	G/A;C	snv	2.0E-05		2
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			1
rs137852672	ABCC8	0.925	0.120	11	17463457	splice donor variant	A/T	snv	1.5E-04	2.2E-04	1
rs387906407	ABCC8	0.925	0.120	11	17395610	missense variant	C/G;T	snv			1
rs104894015	GCK ; LOC105375258	0.925	0.120	7	44149798	missense variant	T/C	snv			1
rs193922587	HNF1A	0.925	0.160	12	120999522	missense variant	C/T	snv	8.1E-06		1
rs750414160	KCNJ11	0.925	0.120	11	17387224	missense variant	C/A;T	snv	4.0E-06; 2.0E-05		1
rs121913236	KRAS	0.882	0.160	12	25245321	missense variant	G/C;T	snv			1