DisGeNET - a database of gene-disease associations

List of shared variants

von Willebrand's factor (lab test), C2239219

Disease: Factor VII measurement

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
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv			15
rs8176749	ABO	1.000	0.040	9	133255801	synonymous variant	C/T	snv	0.12	0.11	7
rs8176704	ABO	0.925	0.080	9	133260148	intron variant	G/A	snv			5
rs1063857	VWF			12	6044348	synonymous variant	A/G	snv	0.31	0.40	4
rs488703	F7			13	113116562	intron variant	G/A	snv		0.14	3
rs561241	F7			13	113105720	upstream gene variant	T/C;G	snv			3
rs1755685				13	113102878	upstream gene variant	C/A	snv		0.14	2
rs776905	F10			13	113127628	intron variant	A/C	snv		8.7E-02	2
rs9390459	STXBP5			6	147359223	synonymous variant	A/G	snv	0.53	0.55	2