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
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
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs121909244	PPARG	0.776	0.160	3	12434111	missense variant	C/A;T	snv	4.0E-06		11
rs80356618	KCNJ11	0.807	0.200	11	17387595	missense variant	C/A;T	snv			8
rs1446306735	ABCC8	0.882	0.120	11	17395664	missense variant	C/A;T	snv			3
rs9906827	RPTOR	0.925	0.120	17	80691605	intron variant	C/A;T	snv			2
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs11202592	KLLN ; PTEN	0.851	0.200	10	87864461	5 prime UTR variant	C/G	snv	3.8E-03	1.4E-03	5
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1387153		0.807	0.200	11	92940662	downstream gene variant	C/G;T	snv			10
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs764232985	GCK	0.851	0.080	7	44153381	missense variant	C/G;T	snv	4.0E-06		4
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs290487	TCF7L2	0.776	0.280	10	113149972	intron variant	C/T	snv		0.16	10
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
rs13412852	LPIN1	0.851	0.120	2	11774815	intron variant	C/T	snv		0.26	4
rs4436578	DRD2	0.925	0.080	11	113436043	intron variant	C/T	snv		0.73	4