DisGeNET - a database of gene-disease associations

List of associated variants

Von Hippel-Lindau Syndrome, C0019562

Source: ALL

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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
rs1060503552	VHL	0.925	0.160	3	10142073	frameshift variant	TT/-	del			2
rs1559429736	VHL	1.000	0.120	3	10149856	frameshift variant	TG/-	del			1
rs5030648	VHL	0.925	0.160	3	10142071	inframe deletion	TCT/-	delins			2
rs1559428180	VHL	1.000	0.120	3	10146592	protein altering variant	TCAATGTTG/ACAATTATTTGTGCCATCTCTCAA	delins			1
rs869025649	VHL	0.925	0.160	3	10146588	frameshift variant	TC/-	delins			2
rs869025634	VHL	1.000	0.120	3	10142187	splice donor variant	TACGG/-	delins			1
rs1559426095	VHL	1.000	0.120	3	10142137	frameshift variant	TACC/-	delins			1
rs1188254133	VEGFA	0.851	0.240	6	43781990	missense variant	T/G	snv		7.0E-06	4
rs28940297	VHL	0.882	0.240	3	10149811	missense variant	T/C;G	snv			4
rs5030830	VHL	0.925	0.160	3	10146526	missense variant	T/C;G	snv			3
rs5030833	VHL	0.925	0.160	3	10146580	missense variant	T/C;G	snv	4.0E-06		3
rs869025655	VHL	0.925	0.160	3	10146625	missense variant	T/C;G	snv			3
rs5030814	VHL	0.925	0.160	3	10146638	splice donor variant	T/C;G	snv			2
rs869025616	VHL	0.925	0.160	3	10142040	missense variant	T/C;G	snv			2
rs5030809	VHL	0.776	0.320	3	10142139	missense variant	T/C	snv	1.3E-05		10
rs869025667	VHL	0.827	0.200	3	10149916	missense variant	T/C	snv			6
rs1553619948	VHL	0.882	0.200	3	10146528	missense variant	T/C	snv			3
rs869025618	VHL	1.000	0.120	3	10142061	missense variant	T/C	snv			2
rs1064793878	VHL	1.000	0.120	3	10149874	missense variant	T/C	snv			1
rs1553620313	VHL	1.000	0.120	3	10149807	missense variant	T/C	snv			1
rs5030822	VHL	0.925	0.160	3	10149856	missense variant	T/A;C;G	snv			3
rs397516445	VHL	1.000	0.120	3	10149820	missense variant	T/A;C;G	snv			1
rs5030803	VHL	1.000	0.120	3	10142068	missense variant	T/A;C;G	snv			1
rs730882033	VHL	1.000	0.120	3	10142074	missense variant	T/A;C;G	snv			1
rs104893824	VHL	0.776	0.320	3	10142181	missense variant	T/A;C	snv			8