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
rs2720680	PVT1	0.851	0.160	8	128102971	intron variant	A/G	snv	0.33	4
rs2608029	PVT1	1.000	0.040	8	128157880	intron variant	C/G	snv	0.37	2
rs2019960	PVT1	0.925	0.160	8	128180025	intron variant	T/C	snv	0.27	2
rs10087240	PVT1			8	128000328	intron variant	C/G;T	snv		2
rs11786130	PVT1			8	127992729	intron variant	G/A	snv	0.31	2
rs13254990	PVT1	0.882	0.120	8	128064205	intron variant	C/T	snv	0.24	2
rs12548939	TMEM75 ; PVT1			8	127946525	intron variant	C/T	snv	0.24	2
rs66561647	MIR1205 ; PVT1			8	127959615	intron variant	C/A;T	snv		1
rs6992123	PVT1			8	127978488	intron variant	A/G	snv	0.18	1
rs4733789	PVT1			8	127822157	intron variant	C/G;T	snv		1
rs6992491	PVT1			8	128185657	intron variant	C/G	snv	0.25	1
rs12676304	PVT1			8	128151049	intron variant	A/C	snv	0.24	1
rs6470589	PVT1	1.000	0.120	8	127877126	intron variant	C/A;G	snv		1
rs6470588	PVT1	1.000	0.120	8	127877125	intron variant	A/C	snv	0.53	1
rs35252396	PVT1	1.000	0.120	8	127877125	intron variant	AC/CG	mnv		1
rs1499364	PVT1			8	128167680	intron variant	A/G	snv	0.26	1
rs12548864	PVT1			8	127916000	intron variant	C/T	snv	0.27	1
rs2608053	PVT1	1.000	0.120	8	128063586	intron variant	T/C	snv	0.50	1
rs4733823	PVT1			8	128002451	intron variant	C/A;T	snv	0.47	1
rs13280095	PVT1	1.000	0.080	8	128166844	intron variant	A/C	snv	0.26	1
rs12156002	PVT1	1.000	0.080	8	128178298	intron variant	C/A	snv	0.24	1
rs759648	PVT1	1.000	0.080	8	128146699	intron variant	A/C	snv	0.33	1
rs4410871	PVT1	0.925	0.080	8	127802783	intron variant	T/C	snv	0.74	1
rs13255292	PVT1	0.925	0.120	8	128064327	intron variant	C/T	snv	0.24	1
rs10956401	PVT1			8	127990173	non coding transcript exon variant	G/A	snv	0.31	1