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 EXOME	AF GENOME	Num. diseases
rs9971916	PDE3A			12	20535707	intron variant	A/T	snv		0.99	2
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6
rs1912439	NOS1AP			1	162324355	intron variant	A/G	snv		0.98	2
rs425820	NOS1AP			1	162323874	intron variant	G/A	snv		0.98	2
rs675504				11	102959002	upstream gene variant	A/G	snv		0.98	5
rs1879997	NR1I2			3	119802381	intron variant	T/C	snv		0.97	2
rs10954843	NRG1			8	32419595	intron variant	G/A	snv		0.97	2
rs1881626	PRKAG2			7	151825722	intron variant	T/C	snv		0.96	2
rs11921179	TRH			3	129976195	intron variant	G/A	snv		0.96	5
rs820164	ITGB4			17	75719444	upstream gene variant	C/T	snv		0.95	2
rs480392	NTNG1			1	107436774	synonymous variant	A/C	snv	0.99	0.95	3
rs1790082	P2RY2			11	73226816	intron variant	C/T	snv		0.95	2
rs2366858				7	80711306	regulatory region variant	C/A	snv		0.94	2
rs1552481	IL6R ; IL6R-AS1			1	154403877	non coding transcript exon variant	C/T	snv		0.94	2
rs2072560	ZPR1 ; APOA5			11	116791110	missense variant	T/C	snv	0.89	0.94	5
rs6726798	VIL1			2	218436132	intron variant	A/C	snv		0.94	3
rs6589565	BUD13			11	116769521	intron variant	A/G	snv		0.93	5
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	19
rs9326246		0.925	0.040	11	116741017	intergenic variant	C/G	snv		0.93	9
rs583662	LIPC ; ALDH1A2			15	58430077	intron variant	G/A	snv		0.93	2
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs643531	TTC39B			9	15296036	intron variant	C/A	snv		0.89	2
rs1461729	LOC157273	1.000		8	9329732	intron variant	A/G	snv		0.88	5
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10