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rs62643632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 4 Von Willebrand disease, type 3
(-;C) 3 carrier of a Von Willebrand disease allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome12
Position6044298
GeneVWF
is asnp
is mentioned by
dbSNPrs62643632
ebirs62643632
HLIrs62643632
Exacrs62643632
Varsomers62643632
Maprs62643632
PheGenIrs62643632
hapmaprs62643632
1000 genomesrs62643632
hgdprs62643632
ensemblrs62643632
gopubmedrs62643632
geneviewrs62643632
scholarrs62643632
googlers62643632
pharmgkbrs62643632
gwascentralrs62643632
openSNPrs62643632
23andMers62643632
23andMe allrs62643632
SNP Nexus

SNPshotrs62643632
SNPdbers62643632
MSV3drs62643632
GWAS Ctlgrs62643632
Max Magnitude4

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,