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rs61748478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a Von Willebrand disease allele
(G;G) 4 Von Willebrand disease, type 2N
ReferenceGRCh38 38.1/141
Chromosome12
Position6044349
GeneVWF
is asnp
is mentioned by
dbSNPrs61748478
ebirs61748478
HLIrs61748478
Exacrs61748478
Varsomers61748478
Maprs61748478
PheGenIrs61748478
hapmaprs61748478
1000 genomesrs61748478
hgdprs61748478
ensemblrs61748478
gopubmedrs61748478
geneviewrs61748478
scholarrs61748478
googlers61748478
pharmgkbrs61748478
gwascentralrs61748478
openSNPrs61748478
23andMers61748478
23andMe allrs61748478
SNP Nexus

SNPshotrs61748478
SNPdbers61748478
MSV3drs61748478
GWAS Ctlgrs61748478
Max Magnitude4

rs61748478, also known as c.2384A>G, p.Tyr795Cys and Y795C, is a SNP in the VWF gene on chromosome 12.

The rare rs61748478(G) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049289 by 23andMe.

ClinVar
Risk rs61748478(G;G)
Alt rs61748478(G;G)
Reference rs61748478(A;A)
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.6153515T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000340.3, RCV000086607.1,