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rs121964895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 1
(A;G) 3 Von Willebrand disease, type 1
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6021960
GeneVWF
is asnp
is mentioned by
dbSNPrs121964895
ebirs121964895
HLIrs121964895
Exacrs121964895
Varsomers121964895
Maprs121964895
PheGenIrs121964895
hapmaprs121964895
1000 genomesrs121964895
hgdprs121964895
ensemblrs121964895
gopubmedrs121964895
geneviewrs121964895
scholarrs121964895
googlers121964895
pharmgkbrs121964895
gwascentralrs121964895
openSNPrs121964895
23andMers121964895
23andMe allrs121964895
SNP Nexus

SNPshotrs121964895
SNPdbers121964895
MSV3drs121964895
GWAS Ctlgrs121964895
Merged fromRs28934879
Max Magnitude3

rs121964895, also known as Vicenza, c.3614G>A, p.Arg1205His and R1205H, is a SNP in the VWF gene on chromosome 12.

The rare rs121964895(A) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.

This SNP is also referred to as i3002797 and i5049161 by 23andMe.

OMIM613160
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121964895(A,T;A,T)
Alt rs121964895(A,T;A,T)
Reference rs121964895(G;G)
Significance Pathogenic
Disease not provided von Willebrand disease type 1 von Willebrand factor Vicenza
Variation info
Gene VWF
CLNDBN not provided von Willebrand disease type 1 von Willebrand factor Vicenza
Reversed 1
HGVS NC_000012.11:g.6131126C>A; NC_000012.11:g.6131126C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000086667.1, RCV000000335.3, RCV000000336.3, RCV000086666.1,