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
rs1375557127	HNF4A	0.925	0.080	20	44424123	missense variant	G/A	snv	4.0E-06		2
rs776793516	HNF1A	0.925	0.080	12	120997492	frameshift variant	CA/-	delins	4.0E-06		2
rs755498926	GCK	1.000	0.040	7	44145228	missense variant	T/C	snv	4.1E-06		1
rs1057524900	GCK	0.925	0.080	7	44145173	missense variant	G/A;T	snv	4.2E-06		2
rs193922262	GCK	0.925	0.080	7	44145636	stop gained	C/A;G	snv	4.3E-06		2
rs953686324	CLCNKB	0.851	0.160	1	16044506	frameshift variant	-/G	delins	4.3E-06	5.6E-05	7
rs561017686	NEUROD1 ; CERKL	0.882	0.120	2	181678138	missense variant	G/A;C	snv	8.0E-06; 8.4E-04		4
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs1085307455	GCK ; LOC105375258	0.925	0.080	7	44149977	missense variant	G/A;T	snv	8.0E-06		2
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs104894006	GCK ; LOC105375258	0.925	0.040	7	44149992	stop gained	G/A;T	snv	1.2E-05		2
rs1272388614	ABCC8	0.851	0.080	11	17395658	missense variant	C/T	snv	2.4E-05	3.5E-05	5
rs59852838	ABCC8	0.882	0.120	11	17453228	missense variant	T/C	snv	4.0E-05	4.9E-05	3
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs373269573	EHMT1	0.925	0.080	9	137711015	missense variant	G/A	snv	1.6E-04	9.1E-05	2
rs11202592	KLLN ; PTEN	0.851	0.200	10	87864461	5 prime UTR variant	C/G	snv	3.8E-03	1.4E-03	5
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs2273773	SIRT1	0.790	0.360	10	67906841	synonymous variant	T/C	snv	0.11	7.1E-02	9
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88