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
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv			23
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	21
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	13
rs738408	PNPLA3	0.925	0.120	22	43928850	synonymous variant	C/T	snv	0.28	0.22	9
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	8
rs333947	CSF1			1	109928142	intron variant	G/A	snv		0.13	7
rs3747207	PNPLA3			22	43928975	intron variant	G/A	snv		0.22	7
rs11878604				19	40827379	intron variant	T/C	snv		0.14	5
rs4835265	ZNF827			4	145900258	intron variant	C/A	snv		0.15	5
rs4823173	PNPLA3	0.827	0.200	22	43932850	intron variant	G/A	snv	0.24	0.18	4
rs10001545				4	87254878	intergenic variant	C/A;T	snv			3
rs16840760				2	204118831	intergenic variant	T/C	snv		3.6E-02	3
rs75759936				4	78698045	intergenic variant	C/A	snv		5.0E-03	3
rs2241339	ABCB11			2	169013785	intron variant	C/A;T	snv			3
rs139761834	CD36			7	80545045	intron variant	T/C	snv		2.8E-04	3
rs892295	CHL1			3	355870	intron variant	A/G	snv		0.87	3
rs1818782	DAB2 ; C9			5	39424526	intron variant	A/C	snv		0.56	3
rs34010237	FCGRT			19	49509317	intron variant	G/A	snv		0.13	3
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv		0.24	3
rs2078087	NMNAT2			1	183389270	intron variant	C/T	snv		0.16	3
rs74913549	PANX1			11	94180526	intron variant	T/A;C	snv			3
rs13077101	RABL3			3	120706484	intron variant	T/C	snv			3
rs4949718	ST6GALNAC3			1	76433779	intron variant	T/A;C	snv			3
rs12231737	TRAFD1	0.925	0.120	12	112136812	intron variant	C/T	snv		5.9E-03	3
rs11067592				12	109631385	intergenic variant	G/T	snv		1.2E-03	2