DisGeNET - a database of gene-disease associations

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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 GENOME	Num. diseases
rs3138708	SLC2A2			3	171009914	intron variant	T/G	snv	3.1E-02	2
rs5394	SLC2A2			3	171027104	intron variant	G/A	snv	0.15	2
rs4458523	WFS1	1.000	0.080	4	6288259	intron variant	T/G	snv	0.61	3
rs4869272	MIR583HG ; LOC101929710			5	96203744	intron variant	C/T	snv	0.72	3
rs7708285	ZBED3-AS1	1.000	0.080	5	77130042	intron variant	G/A	snv	0.76	3
rs7713317	LOC101929710			5	96381018	intron variant	A/G	snv	0.28	3
rs7756992	CDKAL1	0.827	0.240	6	20679478	intron variant	A/G;T	snv		12
rs9368222	CDKAL1	1.000	0.080	6	20686765	intron variant	C/A;T	snv		8
rs17762454	RREB1	0.925	0.120	6	7212967	non coding transcript exon variant	C/T	snv	0.25	4
rs12055786	RGS17			6	153109990	intron variant	C/T	snv	0.46	3
rs2300615	GLP1R			6	39071727	intron variant	T/G	snv	0.17	2
rs3778321	RREB1			6	7250037	3 prime UTR variant	G/A	snv	0.11	2
rs4607517	GCK	0.882	0.080	7	44196069	intron variant	G/A;C	snv		8
rs1799884	GCK	1.000	0.080	7	44189469	intron variant	C/T	snv	0.17	6
rs17168486	DGKB	1.000	0.080	7	14858657	intron variant	C/T	snv	0.18	5
rs2191349		1.000	0.080	7	15024684	intergenic variant	G/T	snv	0.54	4
rs6975024	GCK			7	44192287	intron variant	T/C	snv	0.14	4
rs10228456		1.000	0.080	7	15024301	intergenic variant	C/T	snv	0.54	3
rs2908289	GCK ; LOC105375257	1.000	0.080	7	44184343	intron variant	G/A	snv	0.20	3
rs4245555	GRB10	1.000	0.120	7	50593712	intron variant	T/C	snv	0.32	3
rs10278336	YKT6			7	44205764	intron variant	A/C;G	snv		2
rs2268575	GCK ; LOC105375258			7	44149675	intron variant	T/C	snv	0.18	2
rs2971671	LOC105375257 ; GCK			7	44171738	intron variant	T/C	snv	0.22	2
rs2979422	POLD2			7	44122756	intron variant	T/C	snv	0.20	2
rs6943153	GRB10			7	50723882	intron variant	T/C	snv	0.56	2