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rs61748477

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
Position6044361
GeneVWF
is asnp
is mentioned by
dbSNPrs61748477
ebirs61748477
HLIrs61748477
Exacrs61748477
Varsomers61748477
Maprs61748477
PheGenIrs61748477
hapmaprs61748477
1000 genomesrs61748477
hgdprs61748477
ensemblrs61748477
gopubmedrs61748477
geneviewrs61748477
scholarrs61748477
googlers61748477
pharmgkbrs61748477
gwascentralrs61748477
openSNPrs61748477
23andMers61748477
23andMe allrs61748477
SNP Nexus

SNPshotrs61748477
SNPdbers61748477
MSV3drs61748477
GWAS Ctlgrs61748477
Max Magnitude4

rs61748477, also known as c.2372C>T, Thr791Met and T791M, is a SNP in the VWF gene on chromosome 12.

The rare rs61748477(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049057 by 23andMe.

OMIM613160
Desc
Variant0011
Relatedalso


ClinVar
Risk rs61748477(T;T)
Alt rs61748477(T;T)
Reference rs61748477(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.6153527G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000318.2, RCV000086606.1,