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
rs10515074	PIK3R1	0.925	0.120	5	68270365	intron variant	A/G;T	snv			2
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1800797	IL6 ; IL6-AS1 ; STEAP1B	0.605	0.800	7	22726602	non coding transcript exon variant	A/G	snv		0.72	43
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs193922331	LOC105375258 ; GCK	0.882	0.080	7	44147726	missense variant	A/G	snv		7.0E-06	4
rs764232985	GCK	0.851	0.080	7	44153381	missense variant	C/G;T	snv	4.0E-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			3
rs193922289	GCK	0.882	0.080	7	44152420	missense variant	C/T	snv	4.0E-06		3
rs193929375	GCK	0.882	0.120	7	44145560	missense variant	C/A	snv			3
rs104894006	GCK ; LOC105375258	0.925	0.040	7	44149992	stop gained	G/A;T	snv	1.2E-05		2
rs1057524900	GCK	0.925	0.080	7	44145173	missense variant	G/A;T	snv	4.2E-06		2
rs1057524901	GCK	0.925	0.080	7	44145190	frameshift variant	G/-	del			2
rs1057524903	GCK ; LOC105375258	0.925	0.080	7	44146466	missense variant	T/C	snv			2
rs1057524906	GCK	0.925	0.080	7	44153387	missense variant	A/G	snv			2
rs1064794268	GCK	0.925	0.080	7	44153396	missense variant	T/G	snv			2
rs1085307455	GCK ; LOC105375258	0.925	0.080	7	44149977	missense variant	G/A;T	snv	8.0E-06		2
rs1562715574	LOC105375258 ; GCK	0.925	0.080	7	44147795	missense variant	T/C	snv			2
rs193922262	GCK	0.925	0.080	7	44145636	stop gained	C/A;G	snv	4.3E-06		2
rs193922287	GCK	0.925	0.080	7	44153334	missense variant	G/A	snv	4.0E-06		2
rs397514580	GCK ; LOC105375258	0.925	0.080	7	44146467	missense variant	C/T	snv			2