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rs61750591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 3 Von Willebrand disease, type 1 (likely)
(-;T) 3 Von Willebrand disease, type 1 (likely)
(T;T) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position6018474
GeneVWF
is asnp
is mentioned by
dbSNPrs61750591
ebirs61750591
HLIrs61750591
Exacrs61750591
Varsomers61750591
Maprs61750591
PheGenIrs61750591
hapmaprs61750591
1000 genomesrs61750591
hgdprs61750591
ensemblrs61750591
gopubmedrs61750591
geneviewrs61750591
scholarrs61750591
googlers61750591
pharmgkbrs61750591
gwascentralrs61750591
openSNPrs61750591
23andMers61750591
23andMe allrs61750591
SNP Nexus

SNPshotrs61750591
SNPdbers61750591
MSV3drs61750591
GWAS Ctlgrs61750591
Max Magnitude3
rs61750591, also known as c.4944delT, p.Ile1649Serfs and p.1648fsX45, is a SNP in the VWF gene on chromosome 12.

The rarer rs61750591(-) deletion allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]

This SNP appears to be referred to as i5039448 by 23andMe.

ClinVar
Risk rs61750591(;)
Alt rs61750591(;)
Reference rs61750591(T;T)
Significance Untested
Disease not provided
Variation info
Gene VWF
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.6127640delA
CLNSRC
CLNACC RCV000086816.1,