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
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs4580704	CLOCK	0.790	0.200	4	55460540	intron variant	G/C	snv		0.69	13
rs11932595	CLOCK	0.827	0.160	4	55457430	intron variant	A/G;T	snv			12
rs1320702652	MFAP1	0.752	0.160	15	43824536	missense variant	G/A	snv	4.0E-06		11
rs121909244	PPARG	0.776	0.160	3	12434111	missense variant	C/A;T	snv	4.0E-06		11
rs1387153		0.807	0.200	11	92940662	downstream gene variant	C/G;T	snv			10
rs290487	TCF7L2	0.776	0.280	10	113149972	intron variant	C/T	snv		0.16	10
rs2273773	SIRT1	0.790	0.360	10	67906841	synonymous variant	T/C	snv	0.11	7.1E-02	9
rs137853240	HNF1A	0.807	0.080	12	120994405	missense variant	G/A	snv		1.4E-05	8
rs80356618	KCNJ11	0.807	0.200	11	17387595	missense variant	C/A;T	snv			8
rs953686324	CLCNKB	0.851	0.160	1	16044506	frameshift variant	-/G	delins	4.3E-06	5.6E-05	7
rs518147	HTR2C	0.807	0.200	X	114584109	5 prime UTR variant	C/A;G	snv			7
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs340874	PROX1 ; PROX1-AS1	0.882	0.080	1	213985913	non coding transcript exon variant	T/C	snv		0.40	7
rs10010131	WFS1	0.827	0.120	4	6291188	intron variant	A/G	snv	0.66	0.63	7
rs137853238	HNF1A	0.807	0.200	12	120994265	missense variant	G/A	snv			6
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs1272388614	ABCC8	0.851	0.080	11	17395658	missense variant	C/T	snv	2.4E-05	3.5E-05	5
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs11202592	KLLN ; PTEN	0.851	0.200	10	87864461	5 prime UTR variant	C/G	snv	3.8E-03	1.4E-03	5
rs7744	MYD88	0.827	0.160	3	38142530	3 prime UTR variant	A/G	snv		0.13	5
rs4436578	DRD2	0.925	0.080	11	113436043	intron variant	C/T	snv		0.73	4
rs764232985	GCK	0.851	0.080	7	44153381	missense variant	C/G;T	snv	4.0E-06		4