DisGeNET - a database of gene-disease associations

List of associated variants

Impaired glucose tolerance, C0271650

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
rs2073162	TNMD	1.000	0.080	X	100594020	synonymous variant	G/A	snv	0.40	0.39	2
rs1805097	IRS2	0.689	0.360	13	109782884	missense variant	C/G;T	snv	0.35		22
rs886205	ALDH2	0.827	0.360	12	111766623	intron variant	A/G	snv		0.35	8
rs2278426	ANGPTL8 ; DOCK6	1.000	0.080	19	11239812	missense variant	C/T	snv	0.11	0.11	11
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
rs2293855	MTMR9	0.851	0.120	8	11319901	non coding transcript exon variant	G/A	snv		0.35	5
rs1799999	PPP1R3A	0.882	0.160	7	113878379	missense variant	C/A	snv	0.22	0.17	4
rs3813929	HTR2C	0.851	0.240	X	114584047	upstream gene variant	C/G;T	snv			5
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs75527207	CFTR	0.732	0.440	7	117587806	missense variant	G/A	snv	1.8E-04	3.0E-04	15
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		21
rs2920502	PPARG	0.851	0.160	3	12287696	intron variant	G/C	snv		0.27	6
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
rs72551362	PPARG	0.925	0.080	3	12416836	missense variant	G/A	snv	4.0E-06		4
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
rs744373		0.851	0.160	2	127137039	downstream gene variant	A/G	snv		0.35	8
rs2233580	PAX4	0.882	0.080	7	127613496	missense variant	C/T	snv	8.2E-03	2.1E-03	5
rs13283456	PTGES2	0.925	0.080	9	128122474	missense variant	C/A;T	snv	4.0E-06; 0.13		3
rs997509	ENPP1	0.827	0.200	6	131846837	intron variant	C/T	snv		5.3E-02	6