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
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
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs137853240	HNF1A	0.807	0.080	12	120994405	missense variant	G/A	snv		1.4E-05	8
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
rs750931344	SLC38A4	1.000	0.040	12	46769424	missense variant	C/T	snv	4.0E-06		1
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs8004664	FOXN3	0.925	0.080	14	89568628	intron variant	G/A;C	snv			3
rs10139403	DLK1	1.000	0.040	14	100728224	intron variant	A/G	snv		0.62	1
rs1320702652	MFAP1	0.752	0.160	15	43824536	missense variant	G/A	snv	4.0E-06		11
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv			21
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs8066560	SREBF1	0.925	0.040	17	17824729	intron variant	A/G	snv		0.64	2
rs9906827	RPTOR	0.925	0.120	17	80691605	intron variant	C/A;T	snv			2
rs369841551	MC4R	0.882	0.120	18	60371884	stop gained	G/A;T	snv	4.0E-06		3
rs1375557127	HNF4A	0.925	0.080	20	44424123	missense variant	G/A	snv	4.0E-06		2
rs1385251852	MIR3646 ; HNF4A	0.925	0.080	20	44406208	frameshift variant	G/-	delins			2
rs1392795567	HNF4A	0.925	0.080	20	44414663	splice donor variant	G/A	snv			2
rs1568724014	MIR3646 ; HNF4A	0.925	0.080	20	44407421	stop gained	C/T	snv			2
rs1018185646	HNF4A	1.000	0.040	20	44428455	missense variant	T/C	snv	4.0E-06		1