DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs9992793	PPA2			4	105404743	intron variant	C/T	snv		0.47	1
rs9989230	RBM23	1.000	0.040	14	22912771	intron variant	C/G;T	snv			2
rs9982370	ERG			21	38493931	intron variant	C/T	snv		0.22	1
rs9973442	LOC105373831			2	198658134	intron variant	C/A;T	snv			1
rs9966005	DCC			18	52913996	intron variant	A/G	snv		0.40	1
rs9964122				18	65737050	intergenic variant	A/G;T	snv			1
rs9951698				18	12945311	upstream gene variant	C/G;T	snv			1
rs9949444	DCC			18	53169534	intron variant	A/C	snv		0.38	1
rs9948681	SEH1L			18	12974738	intron variant	C/A;T	snv			1
rs9934041	RBFOX1			16	7179578	intron variant	C/T	snv		0.32	1
rs9922110	SULT1A1 ; LOC107984835			16	28610833	non coding transcript exon variant	C/A;G;T	snv			1
rs9921412	PKD1L3			16	71954207	missense variant	C/T	snv	0.79	0.72	1
rs992005	LOC105373831			2	198640041	intron variant	C/G;T	snv			1
rs9916613				17	30355435	regulatory region variant	T/A	snv		0.40	1
rs9911578	PPM1E			17	58875786	intron variant	C/T	snv		0.64	1
rs9906944	IGF2BP1			17	49014058	intron variant	C/G;T	snv			3
rs989501		1.000	0.040	14	70894697	intergenic variant	G/A	snv		0.63	2
rs9888986	SLC7A6			16	68263325	upstream gene variant	G/A	snv		0.14	1
rs9879090	PBRM1			3	52614249	intron variant	T/A;C	snv			1
rs9868075	BBX	1.000	0.040	3	107549762	intron variant	C/T	snv		0.13	2
rs9864170	CADM2			3	85561758	intron variant	A/G;T	snv			1
rs9862291				3	137318216	intergenic variant	A/G	snv		0.36	1
rs9858059	GNAT1			3	50190438	upstream gene variant	C/A;T	snv		0.45	1
rs9856289	KALRN			3	124180030	intron variant	A/C	snv		0.32	1
rs9853960				3	136769147	intergenic variant	G/A	snv		0.39	1