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	Num. diseases
rs1131690959	VHL			3	10142133	stop gained	C/T	snv		1
rs1553620318	VHL			3	10149810	missense variant	C/T	snv		1
rs5030825	VHL			3	10149906	stop gained	C/T	snv		1
rs1131690964	VHL	1.000	0.120	3	10142124	frameshift variant	G/-	delins		2
rs1553619957	VHL			3	10146560	frameshift variant	G/-	delins		1
rs730882037	VHL			3	10142026	frameshift variant	G/-	delins		1
rs869025615	VHL	1.000	0.120	3	10142009	frameshift variant	G/-;GG	delins		2
rs730882035	VHL	0.807	0.200	3	10149805	missense variant	G/A	snv		7
rs104893826	VHL	0.882	0.200	3	10142038	missense variant	G/A;C	snv		4
rs119103277	VHL	0.925	0.160	3	10142110	stop gained	G/A;C	snv		3
rs193922609	VHL	1.000	0.120	3	10142167	missense variant	G/A;C	snv		2
rs5030821	VHL	0.827	0.280	3	10149823	missense variant	G/A;C;T	snv	4.0E-06	8
rs104893831	VHL	0.925	0.040	3	10146549	missense variant	G/A;C;T	snv	2.0E-05	4
rs5030827	VHL	0.882	0.200	3	10142097	missense variant	G/A;C;T	snv	4.4E-06	4
rs587780077	VHL	1.000	0.120	3	10146618	missense variant	G/A;C;T	snv		2
rs5030802	VHL	1.000	0.120	3	10142055	stop gained	G/A;T	snv	4.4E-06	2
rs5030829	VHL	1.000	0.120	3	10142127	stop gained	G/A;T	snv	4.5E-06	2
rs869025631	VHL	1.000	0.120	3	10142179	missense variant	G/A;T	snv		2
rs104893830	VHL	0.925	0.160	3	10146561	missense variant	G/C;T	snv		3
rs869025622	VHL	0.925	0.160	3	10142111	missense variant	G/C;T	snv		3
rs104893825	VHL	1.000	0.120	3	10149819	missense variant	G/T	snv		2
rs730882030	VHL			3	10149935	frameshift variant	GC/-	delins		1
rs730882039	VHL			3	10142066	frameshift variant	GG/-	del		1
rs5030807	VHL	0.851	0.320	3	10142113	missense variant	T/A;C	snv		5
rs121913346	VHL	0.925	0.240	3	10149796	missense variant	T/A;C	snv		3