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rs62643630

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome12
Position6044322
GeneVWF
is asnp
is mentioned by
dbSNPrs62643630
ebirs62643630
HLIrs62643630
Exacrs62643630
Varsomers62643630
Maprs62643630
PheGenIrs62643630
hapmaprs62643630
1000 genomesrs62643630
hgdprs62643630
ensemblrs62643630
gopubmedrs62643630
geneviewrs62643630
scholarrs62643630
googlers62643630
pharmgkbrs62643630
gwascentralrs62643630
openSNPrs62643630
23andMers62643630
23andMe allrs62643630
SNP Nexus

SNPshotrs62643630
SNPdbers62643630
MSV3drs62643630
GWAS Ctlgrs62643630
Max Magnitude4

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,