DisGeNET - a database of gene-disease associations

List of associated variants

DIABETES MELLITUS, PERMANENT NEONATAL, C1833104

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
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
rs267607196	KCNJ11	0.827	0.160	11	17387248	missense variant	C/T	snv	2.4E-05	2.8E-05	5
rs148311934	LOC105375258 ; GCK	0.827	0.080	7	44149763	missense variant	C/T	snv	8.0E-06	1.4E-05	5
rs587780345	LOC105375258 ; GCK	0.851	0.080	7	44150004	missense variant	C/T	snv			5
rs193922283	GCK	0.851	0.080	7	44145176	missense variant	G/A	snv			4
rs769268803	GCK ; LOC105375258	0.851	0.080	7	44147747	missense variant	C/G;T	snv	4.0E-06		4
rs587783669	KCNJ11	0.882	0.160	11	17387594	stop gained	G/C;T	snv			4
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			4
rs1360415315	LOC105375258 ; GCK	0.851	0.080	7	44149772	missense variant	C/G;T	snv	4.0E-06		4
rs137852673	ABCC8	0.851	0.120	11	17395915	missense variant	G/A;T	snv	5.0E-06; 2.0E-05		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
rs80356610	KCNJ11	0.827	0.080	11	17387968	missense variant	A/G	snv			3
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			3
rs80356625	KCNJ11	0.827	0.280	11	17387491	missense variant	G/A	snv			3
rs954727530	KCNJ11	0.882	0.160	11	17387992	missense variant	G/A;C	snv	4.0E-06		3