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
rs10010131	WFS1	0.827	0.120	4	6291188	intron variant	A/G	snv	0.66	0.63	7
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs290487	TCF7L2	0.776	0.280	10	113149972	intron variant	C/T	snv		0.16	10
rs8066560	SREBF1	0.925	0.040	17	17824729	intron variant	A/G	snv		0.64	2
rs750931344	SLC38A4	1.000	0.040	12	46769424	missense variant	C/T	snv	4.0E-06		1
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs2273773	SIRT1	0.790	0.360	10	67906841	synonymous variant	T/C	snv	0.11	7.1E-02	9
rs9906827	RPTOR	0.925	0.120	17	80691605	intron variant	C/A;T	snv			2
rs340874	PROX1 ; PROX1-AS1	0.882	0.080	1	213985913	non coding transcript exon variant	T/C	snv		0.40	7
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
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs121909244	PPARG	0.776	0.160	3	12434111	missense variant	C/A;T	snv	4.0E-06		11
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs10515074	PIK3R1	0.925	0.120	5	68270365	intron variant	A/G;T	snv			2
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs164147	NOS1AP	0.882	0.080	1	162368607	3 prime UTR variant	A/C	snv		0.76	3
rs561017686	NEUROD1 ; CERKL	0.882	0.120	2	181678138	missense variant	G/A;C	snv	8.0E-06; 8.4E-04		4
rs7744	MYD88	0.827	0.160	3	38142530	3 prime UTR variant	A/G	snv		0.13	5
rs1385251852	MIR3646 ; HNF4A	0.925	0.080	20	44406208	frameshift variant	G/-	delins			2
rs1568724014	MIR3646 ; HNF4A	0.925	0.080	20	44407421	stop gained	C/T	snv			2
rs1320702652	MFAP1	0.752	0.160	15	43824536	missense variant	G/A	snv	4.0E-06		11