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
rs2292626	PLEKHA1	0.925	0.120	10	122427198	intron variant	C/T	snv		0.46	3
rs10985827	RABGAP1			9	122939329	non coding transcript exon variant	T/G	snv		0.34	1
rs700059	RABGAP1			9	123061776	intron variant	G/A	snv		0.74	1
rs11708067	ADCY5	0.882	0.080	3	123346931	intron variant	A/G	snv		0.19	5
rs11719201	ADCY5			3	123349897	intron variant	C/T	snv		0.20	1
rs9883204	ADCY5			3	123377973	intron variant	T/A;C	snv			1
rs9851257	ADCY5			3	123406864	intron variant	T/A	snv		0.33	1
rs13271368				8	125493898	intron variant	C/T	snv		0.18	1
rs6989280				8	125496504	intron variant	G/A	snv		0.44	1
rs6925689				6	126544738	intron variant	T/C	snv		0.45	2
rs11055030	APOLD1 ; LOC107984129 ; LOC105369663			12	12725415	upstream gene variant	G/C	snv		0.23	1
rs11055034	APOLD1 ; LOC107984129	1.000	0.080	12	12737692	intron variant	C/A;T	snv			2
rs13231367	SND1			7	127869017	intron variant	G/A	snv		0.23	1
rs6467157	SND1			7	128020710	intron variant	T/C	snv		0.24	1
rs2608029	PVT1	1.000	0.040	8	128157880	intron variant	C/G	snv		0.37	2
rs6569647	L3MBTL3			6	130016121	intron variant	T/C	snv		0.34	2
rs1415701	L3MBTL3			6	130024690	intron variant	G/A	snv		0.31	2
rs116807401	PABPC4L			4	134200566	missense variant	T/C	snv	8.8E-03	9.5E-03	1
rs6871635				5	134494704	downstream gene variant	A/G	snv		0.62	1
rs1981627				5	134502489	upstream gene variant	A/C;G;T	snv			1
rs11096402	PLAC1			X	134693838	intron variant	G/A	snv		0.52	1
rs28505901	GPSM1			9	136346577	intron variant	G/A;T	snv		0.24	1
rs17315501	MRPS22			3	139310834	intron variant	G/A	snv		9.2E-03	1
rs12543725	SLC45A4			8	141237880	intron variant	G/A	snv		0.33	1
rs13257363	SLC45A4			8	141242481	intron variant	G/A	snv		0.33	1