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
rs137853238	HNF1A	0.807	0.200	12	120994265	missense variant	G/A	snv			6
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
rs1018185646	HNF4A	1.000	0.040	20	44428455	missense variant	T/C	snv	4.0E-06		1
rs518147	HTR2C	0.807	0.200	X	114584109	5 prime UTR variant	C/A;G	snv			7
rs12836771	HTR2C ; MIR1912 ; MIR1264	0.882	0.080	X	114650913	intron variant	A/G	snv		0.12	4
rs4402960	IGF2BP2	0.724	0.400	3	185793899	intron variant	G/T	snv		0.38	21
rs1800797	IL6 ; IL6-AS1 ; STEAP1B	0.605	0.800	7	22726602	non coding transcript exon variant	A/G	snv		0.72	43
rs10770125	INS-IGF2 ; IGF2 ; IGF2-AS	0.882	0.200	11	2147784	missense variant	A/G	snv	0.49	0.40	4
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
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs80356618	KCNJ11	0.807	0.200	11	17387595	missense variant	C/A;T	snv			8
rs1564865302	KCNJ11	0.925	0.040	11	17387395	missense variant	G/A	snv			2
rs11202592	KLLN ; PTEN	0.851	0.200	10	87864461	5 prime UTR variant	C/G	snv	3.8E-03	1.4E-03	5
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs193922331	LOC105375258 ; GCK	0.882	0.080	7	44147726	missense variant	A/G	snv		7.0E-06	4