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rs41276738

From SNPedia

Orientationplus
Stabilizedplus
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 1
ReferenceGRCh38 38.1/141
Chromosome12
Position6034812
GeneVWF
is asnp
is mentioned by
dbSNPrs41276738
ebirs41276738
HLIrs41276738
Exacrs41276738
Varsomers41276738
Maprs41276738
PheGenIrs41276738
hapmaprs41276738
1000 genomesrs41276738
hgdprs41276738
ensemblrs41276738
gopubmedrs41276738
geneviewrs41276738
scholarrs41276738
googlers41276738
pharmgkbrs41276738
gwascentralrs41276738
openSNPrs41276738
23andMers41276738
23andMe allrs41276738
SNP Nexus

SNPshotrs41276738
SNPdbers41276738
MSV3drs41276738
GWAS Ctlgrs41276738
GMAF0.001377
Max Magnitude4

rs41276738, also known as c.2561G>A, p.Arg854Gln and R854Q, is a SNP in the VWF gene on chromosome 12.

The rare rs41276738(T) allele (in SNPedia orientation) is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049144 by 23andMe.

OMIM613160
Desc
Variant0013
Relatedalso


ClinVar
Risk rs41276738(T;T)
Alt rs41276738(T;T)
Reference rs41276738(C;C)
Significance Pathogenic
Disease von Willebrand disease type 2N von Willebrand disease type 1 not provided von Willebrand disorder
Variation info
Gene VWF
CLNDBN von Willebrand disease type 2N von Willebrand disease type 1 not provided von Willebrand disorder
Reversed 0
HGVS NC_000012.11:g.6143978C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000320.2, RCV000000321.2, RCV000086620.1, RCV000169683.1,



GET Evidence
VWF-R854Q
aa_change Arg854Gln
aa_change_short R854Q
impact pathogenic
qualified_impact Moderate clinical importance, Likely pathogenic
overall_frequency 0.00408998
summary Causes type 2N von Willebrand disease in a recessive manner. This defect in coagulation can manifest as excessive bleeding during surgery.