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rs121964894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a Von Willebrand disease allele
(T;T) 4 Von Willebrand disease, type 2N
ReferenceGRCh38 38.1/141
Chromosome12
Position6036488
GeneVWF
is asnp
is mentioned by
dbSNPrs121964894
ebirs121964894
HLIrs121964894
Exacrs121964894
Varsomers121964894
Maprs121964894
PheGenIrs121964894
hapmaprs121964894
1000 genomesrs121964894
hgdprs121964894
ensemblrs121964894
gopubmedrs121964894
geneviewrs121964894
scholarrs121964894
googlers121964894
pharmgkbrs121964894
gwascentralrs121964894
openSNPrs121964894
23andMers121964894
23andMe allrs121964894
SNP Nexus

SNPshotrs121964894
SNPdbers121964894
MSV3drs121964894
GWAS Ctlgrs121964894
Max Magnitude4

rs121964894, also known as c.2446C>T, p.Arg816Trp and R816W, is a SNP in the VWF gene on chromosome 12.

The rare rs121964894(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049115 by 23andMe.

OMIM613160
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121964894(T;T)
Alt rs121964894(T;T)
Reference rs121964894(C;C)
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.6145654G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000319.2, RCV000086613.1,