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rs61748467

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
Position6046725
GeneVWF
is asnp
is mentioned by
dbSNPrs61748467
ebirs61748467
HLIrs61748467
Exacrs61748467
Varsomers61748467
Maprs61748467
PheGenIrs61748467
hapmaprs61748467
1000 genomesrs61748467
hgdprs61748467
ensemblrs61748467
gopubmedrs61748467
geneviewrs61748467
scholarrs61748467
googlers61748467
pharmgkbrs61748467
gwascentralrs61748467
openSNPrs61748467
23andMers61748467
23andMe allrs61748467
SNP Nexus

SNPshotrs61748467
SNPdbers61748467
MSV3drs61748467
GWAS Ctlgrs61748467
Max Magnitude3

rs61748467, also known as c.2279G>A, p.Arg760His and R760H, is a SNP in the VWF gene on chromosome 12.

The rare rs61748467(A) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.


ClinVar
Risk rs61748467(A;A)
Alt rs61748467(A;A)
Reference rs61748467(G;G)
Significance Pathogenic
Disease von Willebrand disease type 1 not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 1 not provided
Reversed 1
HGVS NC_000012.11:g.6155891C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024003.3, RCV000086595.1,