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rs267607326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Von Willebrand disease, type 2A
(G;G) 3 Von Willebrand disease, type 2A
ReferenceGRCh38 38.1/141
Chromosome12
Position6022841
GeneVWF
is asnp
is mentioned by
dbSNPrs267607326
ebirs267607326
HLIrs267607326
Exacrs267607326
Varsomers267607326
Maprs267607326
PheGenIrs267607326
hapmaprs267607326
1000 genomesrs267607326
hgdprs267607326
ensemblrs267607326
gopubmedrs267607326
geneviewrs267607326
scholarrs267607326
googlers267607326
pharmgkbrs267607326
gwascentralrs267607326
openSNPrs267607326
23andMers267607326
23andMe allrs267607326
SNP Nexus

SNPshotrs267607326
SNPdbers267607326
MSV3drs267607326
GWAS Ctlgrs267607326
Max Magnitude3

rs267607326, also known as c.3437A>G, p.Tyr1146Cys and Y1146C, is a SNP in the VWF gene on chromosome 12.

The rare rs267607326(G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.


ClinVar
Risk rs267607326(G;G)
Alt rs267607326(G;G)
Reference rs267607326(A;A)
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.6132007T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024001.3, RCV000086656.1,