rs62643630

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	carrier of a Von Willebrand disease allele
(T;T)	4	Von Willebrand disease, type 2N

Reference

GRCh38 38.1/141

Chromosome

12

Position

6044322

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs62643630
dbSNP (classic)	rs62643630
ClinGen	rs62643630
ebi	rs62643630
HLI	rs62643630
Exac	rs62643630
Gnomad	rs62643630
Varsome	rs62643630
LitVar	rs62643630
Map	rs62643630
PheGenI	rs62643630
Biobank	rs62643630
1000 genomes	rs62643630
hgdp	rs62643630
ensembl	rs62643630
geneview	rs62643630
scholar	rs62643630
google	rs62643630
pharmgkb	rs62643630
gwascentral	rs62643630
openSNP	rs62643630
23andMe	rs62643630
SNPshot	rs62643630
SNPdbe	rs62643630
MSV3d	rs62643630
GWAS Ctlg	rs62643630

Max Magnitude

4

rs62643630, also known as c.2411G>T, p.Cys804Phe and C804F, is a SNP in the VWF gene on chromosome 12.

The rare rs62643630(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049338 by 23andMe.

ClinVar
Risk	Rs62643630(T;T)
Alt	Rs62643630(T;T)
Reference	Rs62643630(G;G)
Significance	Pathogenic
Disease	von Willebrand disease type 2N not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease type 2N not provided
Reversed	1
HGVS	NC_000012.11:g.6153488C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000341.3, RCV000086609.1,