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rs61748495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 1 (likely)
(A;G) 3 Von Willebrand disease, type 1 (likely)
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position6025901
GeneVWF
is asnp
is mentioned by
dbSNPrs61748495
ebirs61748495
HLIrs61748495
Exacrs61748495
Varsomers61748495
Maprs61748495
PheGenIrs61748495
hapmaprs61748495
1000 genomesrs61748495
hgdprs61748495
ensemblrs61748495
gopubmedrs61748495
geneviewrs61748495
scholarrs61748495
googlers61748495
pharmgkbrs61748495
gwascentralrs61748495
openSNPrs61748495
23andMers61748495
23andMe allrs61748495
SNP Nexus

SNPshotrs61748495
SNPdbers61748495
MSV3drs61748495
GWAS Ctlgrs61748495
Max Magnitude3
rs61748495, also known as c.3108+5G>A, is a SNP in the VWF gene on chromosome 12.

The rarer rs61748495(A) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]

ClinVar
Risk rs61748495(A;A)
Alt rs61748495(A;A)
Reference rs61748495(G;G)
Significance Untested
Disease not provided
Variation info
Gene VWF
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.6135067C>T
CLNSRC
CLNACC RCV000086638.1,