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rs61754002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Von Willebrand disease, type 2N
(A;C) 3 carrier of a Von Willebrand disease allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6072369
GeneVWF
is asnp
is mentioned by
dbSNPrs61754002
ebirs61754002
HLIrs61754002
Exacrs61754002
Varsomers61754002
Maprs61754002
PheGenIrs61754002
hapmaprs61754002
1000 genomesrs61754002
hgdprs61754002
ensemblrs61754002
gopubmedrs61754002
geneviewrs61754002
scholarrs61754002
googlers61754002
pharmgkbrs61754002
gwascentralrs61754002
openSNPrs61754002
23andMers61754002
23andMe allrs61754002
SNP Nexus

SNPshotrs61754002
SNPdbers61754002
MSV3drs61754002
GWAS Ctlgrs61754002
Max Magnitude4

rs61754002, also known as c.1071C>A, p.Tyr357Ter and Y357X, is a SNP in the VWF gene on chromosome 12.

The rare rs61754002(A) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049284 by 23andMe.

ClinVar
Risk rs61754002(A;A)
Alt rs61754002(A;A)
Reference rs61754002(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.6181535G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000344.3, RCV000086555.1,