rs62643632

minus

Geno	Mag	Summary
(-;-)	4	Von Willebrand disease, type 3
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

12

Position

6044298

Gene

VWF

is a	snp
is	mentioned by
dbSNP	rs62643632
dbSNP (classic)	rs62643632
ClinGen	rs62643632
ebi	rs62643632
HLI	rs62643632
Exac	rs62643632
Gnomad	rs62643632
Varsome	rs62643632
LitVar	rs62643632
Map	rs62643632
PheGenI	rs62643632
Biobank	rs62643632
1000 genomes	rs62643632
hgdp	rs62643632
ensembl	rs62643632
geneview	rs62643632
scholar	rs62643632
google	rs62643632
pharmgkb	rs62643632
gwascentral	rs62643632
openSNP	rs62643632
23andMe	rs62643632
SNPshot	rs62643632
SNPdbe	rs62643632
MSV3d	rs62643632
GWAS Ctlg	rs62643632

Max Magnitude

4

rs62643632, also known as c.2435delC and p.Pro812Argfs, is a SNP in the VWF gene on chromosome 12.

The rare rs62643632(-) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.

This SNP does not appear to be represented on the DNA chip currently used by 23andMe. An error in late July in SNPedia indicated that this SNP was referred to as i5039483 by 23andMe, but that SNP is actually the adjacent nucleotide.

ClinVar
Risk	Rs62643632(-;-)
Alt	Rs62643632(-;-)
Reference	Rs62643632(C;C)
Significance	Pathogenic
Disease	von Willebrand disease type 3 not provided
Variation	info
Gene	VWF
CLNDBN	von Willebrand disease type 3 not provided
Reversed	1
HGVS	NC_000012.11:g.6153464delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000330.5, RCV000086611.1,