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
rs1131690954	VHL			3	10146639	splice region variant	A/G	snv			1
rs1131690955	VHL			3	10146591	frameshift variant	-/A	ins			1
rs1131690956	VHL			3	10146531	frameshift variant	A/-	del			1
rs1131690958	VHL			3	10149865	frameshift variant	-/C	delins			1
rs1131690959	VHL			3	10142133	stop gained	C/T	snv			1
rs1131690960	VHL			3	10142109	protein altering variant	-/GGC	delins			1
rs1131690961	VHL			3	10146570	missense variant	A/C	snv			1
rs1131690962	VHL			3	10149829	missense variant	T/C	snv			1
rs1131690963	VHL			3	10149904	missense variant	T/G	snv			1
rs1131690965	VHL			3	10146511	splice region variant	T/G	snv			1
rs1553619957	VHL			3	10146560	frameshift variant	G/-	delins			1
rs1553620312	VHL			3	10149803	inframe insertion	-/ATGCCTCCAGGTTGTCCG	delins			1
rs1553620318	VHL			3	10149810	missense variant	C/T	snv			1
rs5030825	VHL			3	10149906	stop gained	C/T	snv			1
rs730882030	VHL			3	10149935	frameshift variant	GC/-	delins			1
rs730882037	VHL			3	10142026	frameshift variant	G/-	delins			1
rs730882039	VHL			3	10142066	frameshift variant	GG/-	del			1
rs5030809	VHL	0.776	0.320	3	10142139	missense variant	T/C	snv	1.3E-05		10
rs28940298	VHL	0.776	0.280	3	10149921	missense variant	C/T	snv	2.1E-04	1.0E-04	9
rs5030824	VHL	0.776	0.320	3	10149885	missense variant	C/G	snv	2.0E-05	4.2E-05	9
rs730882035	VHL	0.807	0.200	3	10149805	missense variant	G/A	snv			7
rs5030821	VHL	0.827	0.280	3	10149823	missense variant	G/A;C;T	snv	4.0E-06		8
rs5030820	VHL	0.827	0.280	3	10149822	missense variant	C/G;T	snv	8.0E-06		6
rs5030807	VHL	0.851	0.320	3	10142113	missense variant	T/A;C	snv			5
rs104893826	VHL	0.882	0.200	3	10142038	missense variant	G/A;C	snv			4