DisGeNET - a database of gene-disease associations

List of associated variants

von Willebrand Disease, Type 2N, C1282975

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
rs41276738	VWF	0.807	0.080	12	6034812	missense variant	C/T	snv	3.4E-03	3.7E-03	7
rs61748497	VWF	0.851	0.080	12	6025624	missense variant	A/G	snv			4
rs61748477	VWF	0.925	0.080	12	6044361	missense variant	G/A	snv	8.0E-06	1.4E-05	3
rs121964894	VWF	0.925	0.080	12	6036488	missense variant	G/A	snv	6.4E-05	4.2E-05	2
rs530641616	PRH1-PRR4 ; PRH1 ; PRR4	1.000	0.080	12	10882524	missense variant	T/C	snv			1
rs568202260	PRH1-PRR4 ; PRH1 ; PRR4	1.000	0.080	12	10882461	missense variant	T/C	snv			1
rs751205634	PRH2 ; PRR4 ; PRH1-PRR4 ; PRH1	1.000	0.080	12	10930836	missense variant	A/G	snv		7.0E-06	1
rs61748469	VWF	1.000	0.080	12	6044446	missense variant	T/C	snv			1
rs61748478	VWF	1.000	0.080	12	6044349	missense variant	T/C	snv			1
rs61754002	VWF	1.000	0.080	12	6072369	stop gained	G/T	snv			1
rs62643630	VWF	1.000	0.080	12	6044322	missense variant	C/A	snv			1