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rs267607353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 4 Von Willebrand disease, type 2CB
(G;T) 3 Von Willebrand disease, type 2CB
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6016197
GeneVWF
is asnp
is mentioned by
dbSNPrs267607353
ebirs267607353
HLIrs267607353
Exacrs267607353
Varsomers267607353
Maprs267607353
PheGenIrs267607353
hapmaprs267607353
1000 genomesrs267607353
hgdprs267607353
ensemblrs267607353
gopubmedrs267607353
geneviewrs267607353
scholarrs267607353
googlers267607353
pharmgkbrs267607353
gwascentralrs267607353
openSNPrs267607353
23andMers267607353
23andMe allrs267607353
SNP Nexus

SNPshotrs267607353
SNPdbers267607353
MSV3drs267607353
GWAS Ctlgrs267607353
Max Magnitude4

rs267607353, also known as c.5347T>G, p.Ser1783Ala is a SNP in the VWF gene on chromosome 12.

The rare rs267607353(G) allele is considered pathogenic for Von Willebrand disease, type 2CB, according to ClinVar and the VWFdb.

This SNP is referred to as i5049344 by 23andMe.

ClinVar
Risk rs267607353(G;G)
Alt rs267607353(G;G)
Reference rs267607353(T;T)
Significance Pathogenic
Disease von Willebrand disease type 2 not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 2 not provided
Reversed 1
HGVS NC_000012.11:g.6125363A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024004.3, RCV000086836.1,