DisGeNET - a database of gene-disease associations

List of associated variants

Diabetes mellitus autosomal dominant type II (disorder), C0342277

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
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		21
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
rs764232985	GCK	0.851	0.080	7	44153381	missense variant	C/G;T	snv	4.0E-06		4
rs1441649062	GCK ; LOC105375258	0.851	0.080	7	44149822	missense variant	G/A	snv	4.0E-06		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
rs1064793998	GCK	0.882	0.080	7	44153325	missense variant	C/T	snv			3
rs193922289	GCK	0.882	0.080	7	44152420	missense variant	C/T	snv	4.0E-06		3
rs104894008	LOC105375258 ; GCK	0.882	0.080	7	44147732	missense variant	C/G;T	snv	4.0E-06		3
rs104894009	LOC105375258 ; GCK	0.882	0.120	7	44146587	missense variant	C/G	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
rs1255911887	LOC105375258 ; GCK	0.925	0.080	7	44146584	missense variant	C/T	snv			3
rs1064794268	GCK	0.925	0.080	7	44153396	missense variant	T/G	snv			2
rs1286804191	GCK	0.925	0.080	7	44145212	missense variant	G/A	snv	4.1E-06		2
rs1554335761	GCK	0.925	0.080	7	44152396	missense variant	C/T	snv			2
rs1562719705	GCK	0.925	0.080	7	44153361	missense variant	G/A	snv			2
rs193922262	GCK	0.925	0.080	7	44145636	stop gained	C/A;G	snv	4.3E-06		2
rs193922282	GCK	0.925	0.080	7	44145189	missense variant	C/T	snv			2
rs193922287	GCK	0.925	0.080	7	44153334	missense variant	G/A	snv	4.0E-06		2
rs373418736	GCK	0.925	0.080	7	44153306	missense variant	C/T	snv	2.0E-05	3.5E-05	2