DisGeNET - a database of gene-disease associations

List of associated variants

Diabetes mellitus autosomal dominant type II (disorder), C0342277

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
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
rs1360415315	LOC105375258 ; GCK	0.851	0.080	7	44149772	missense variant	C/G;T	snv	4.0E-06		4
rs193922331	LOC105375258 ; GCK	0.882	0.080	7	44147726	missense variant	A/G	snv		7.0E-06	4
rs1057524902	GCK	0.882	0.080	7	44145495	splice donor variant	A/T	snv			3
rs1057524904	LOC105375258 ; GCK	0.882	0.080	7	44147765	missense variant	G/A	snv			3
rs1057524905	LOC105375258 ; GCK	0.882	0.080	7	44147834	splice acceptor variant	C/T	snv			3
rs1064793998	GCK	0.882	0.080	7	44153325	missense variant	C/T	snv			2
rs1064794268	GCK	0.925	0.080	7	44153396	missense variant	T/G	snv			2
rs1562719705	GCK	0.925	0.080	7	44153361	missense variant	G/A	snv			2
rs556581174	GCK	0.925	0.080	7	44145637	stop gained	G/A;C;T	snv			2
rs762263694	GCK	0.925	0.080	7	44153403	missense variant	G/A	snv	1.2E-05	2.8E-05	2
rs764232985	GCK	0.851	0.080	7	44153381	missense variant	C/G;T	snv	4.0E-06		2
rs1085307455	GCK ; LOC105375258	0.925	0.080	7	44149977	missense variant	G/A;T	snv	8.0E-06		2
rs80356654	GCK ; LOC105375258	0.925	0.080	7	44149810	missense variant	A/G;T	snv	4.0E-06		2
rs104894008	LOC105375258 ; GCK	0.882	0.080	7	44147732	missense variant	C/G;T	snv	4.0E-06		2
rs144723656	LOC105375258 ; GCK	0.925	0.080	7	44149794	stop gained	G/A;C;T	snv	9.5E-03		2
rs1562715574	LOC105375258 ; GCK	0.925	0.080	7	44147795	missense variant	T/C	snv			2
rs80356655	LOC105375258 ; GCK	0.925	0.080	7	44147830	missense variant	G/A	snv	4.0E-06		2
rs104894010	GCK	1.000	0.080	7	44151048	missense variant	A/G	snv			1
rs104894016	GCK	1.000	0.080	7	44145618	missense variant	C/G;T	snv			1
rs1286804191	GCK	0.925	0.080	7	44145212	missense variant	G/A	snv	4.1E-06		1
rs1554334579	GCK	1.000	0.080	7	44145577	missense variant	G/T	snv			1