DisGeNET - a database of gene-disease associations

List of associated variants

Hyperglycemia, C0020456

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
rs1057524900	GCK	0.925	0.080	7	44145173	missense variant	G/A;T	snv	4.2E-06		2
rs1085307455	GCK ; LOC105375258	0.925	0.080	7	44149977	missense variant	G/A;T	snv	8.0E-06		2
rs556581174	GCK	0.925	0.080	7	44145637	stop gained	G/A;C;T	snv			2
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs561017686	NEUROD1 ; CERKL	0.882	0.120	2	181678138	missense variant	G/A;C	snv	8.0E-06; 8.4E-04		4
rs8004664	FOXN3	0.925	0.080	14	89568628	intron variant	G/A;C	snv			3
rs1565886545	HNF1A	0.925	0.080	12	120996261	splice acceptor variant	G/A;C	snv			2
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1320702652	MFAP1	0.752	0.160	15	43824536	missense variant	G/A	snv	4.0E-06		11
rs137853240	HNF1A	0.807	0.080	12	120994405	missense variant	G/A	snv		1.4E-05	8
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs137853238	HNF1A	0.807	0.200	12	120994265	missense variant	G/A	snv			6
rs1057524904	LOC105375258 ; GCK	0.882	0.080	7	44147765	missense variant	G/A	snv			3
rs1375557127	HNF4A	0.925	0.080	20	44424123	missense variant	G/A	snv	4.0E-06		2
rs1392795567	HNF4A	0.925	0.080	20	44414663	splice donor variant	G/A	snv			2
rs1564865302	KCNJ11	0.925	0.040	11	17387395	missense variant	G/A	snv			2
rs193922287	GCK	0.925	0.080	7	44153334	missense variant	G/A	snv	4.0E-06		2
rs373269573	EHMT1	0.925	0.080	9	137711015	missense variant	G/A	snv	1.6E-04	9.1E-05	2
rs764437500	EHMT1	0.925	0.080	9	137716697	missense variant	G/A	snv	4.0E-06		2
rs1447680989	GCKR	1.000	0.040	2	27501147	missense variant	G/A	snv	4.0E-06		1
rs746913146	LOC105375258 ; GCK	1.000	0.040	7	44149816	missense variant	G/A	snv	4.0E-06		1
rs1057524901	GCK	0.925	0.080	7	44145190	frameshift variant	G/-	del			2
rs1385251852	MIR3646 ; HNF4A	0.925	0.080	20	44406208	frameshift variant	G/-	delins			2
rs776793516	HNF1A	0.925	0.080	12	120997492	frameshift variant	CA/-	delins	4.0E-06		2
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55