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
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
rs556581174	GCK	0.925	0.080	7	44145637	stop gained	G/A;C;T	snv			2
rs104894006	GCK ; LOC105375258	0.925	0.040	7	44149992	stop gained	G/A;T	snv	1.2E-05		2
rs1057524903	GCK ; LOC105375258	0.925	0.080	7	44146466	missense variant	T/C	snv			2
rs1085307455	GCK ; LOC105375258	0.925	0.080	7	44149977	missense variant	G/A;T	snv	8.0E-06		2
rs397514580	GCK ; LOC105375258	0.925	0.080	7	44146467	missense variant	C/T	snv			2
rs1057524908	HNF1A	0.925	0.080	12	120993686	frameshift variant	-/C	delins			2
rs1565886545	HNF1A	0.925	0.080	12	120996261	splice acceptor variant	G/A;C	snv			2
rs776793516	HNF1A	0.925	0.080	12	120997492	frameshift variant	CA/-	delins	4.0E-06		2
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
rs1057524907	INS-IGF2 ; INS	0.925	0.080	11	2159907	missense variant	T/C	snv			2
rs1564911425	INS-IGF2 ; INS	0.925	0.080	11	2159895	missense variant	G/C	snv			2
rs1564865302	KCNJ11	0.925	0.040	11	17387395	missense variant	G/A	snv			2
rs1562715574	LOC105375258 ; GCK	0.925	0.080	7	44147795	missense variant	T/C	snv			2
rs751279776	LOC105375258 ; GCK	0.925	0.080	7	44149986	missense variant	C/T	snv	4.0E-06		2
rs1385251852	MIR3646 ; HNF4A	0.925	0.080	20	44406208	frameshift variant	G/-	delins			2
rs1568724014	MIR3646 ; HNF4A	0.925	0.080	20	44407421	stop gained	C/T	snv			2
rs10515074	PIK3R1	0.925	0.120	5	68270365	intron variant	A/G;T	snv			2
rs9906827	RPTOR	0.925	0.120	17	80691605	intron variant	C/A;T	snv			2
rs8066560	SREBF1	0.925	0.040	17	17824729	intron variant	A/G	snv		0.64	2
rs1410713		1.000	0.040	20	3079704	downstream gene variant	A/C	snv		0.62	1
rs2770381		1.000	0.040	20	3081340	downstream gene variant	A/C	snv		0.35	1
rs775776658	ABCC8	1.000	0.040	11	17474926	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.0E-05		1