DisGeNET - a database of gene-disease associations

List of associated variants

DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder), C1864623

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
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs80356610	KCNJ11	0.827	0.080	11	17387968	missense variant	A/G	snv			6
rs267607196	KCNJ11	0.827	0.160	11	17387248	missense variant	C/T	snv	2.4E-05	2.8E-05	5
rs780957825	KCNJ11	0.827	0.160	11	17387211	missense variant	G/A;C	snv	2.0E-05		5
rs587783669	KCNJ11	0.882	0.160	11	17387594	stop gained	G/C;T	snv			4
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
rs193929348	KCNJ11	0.882	0.120	11	17387548	missense variant	T/C	snv			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
rs80356613	KCNJ11	0.925	0.080	11	17387935	missense variant	C/G;T	snv			2