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rs33978901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 association with Von Willebrand disease type 1
(T;T) 3 association with Von Willebrand disease type 1
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position6031493
GeneVWF
is asnp
is mentioned by
dbSNPrs33978901
ebirs33978901
HLIrs33978901
Exacrs33978901
Varsomers33978901
Maprs33978901
PheGenIrs33978901
hapmaprs33978901
1000 genomesrs33978901
hgdprs33978901
ensemblrs33978901
gopubmedrs33978901
geneviewrs33978901
scholarrs33978901
googlers33978901
pharmgkbrs33978901
gwascentralrs33978901
openSNPrs33978901
23andMers33978901
23andMe allrs33978901
SNP Nexus

SNPshotrs33978901
SNPdbers33978901
MSV3drs33978901
GWAS Ctlgrs33978901
Max Magnitude3
rs33978901, also known as c.2771G>A, p.Arg924Gln and R924Q, is a SNP in the VWF gene on chromosome 12.

The rarer rs33978901(T) allele (in dbSNP and SNPedia orientation) leads to reductions in VWF and FVIII levels particularly in combination with blood group O. Its inheritance alone may be insufficient for the diagnosis of Von Willebrand disease, but it does appear to be associated with a further VWF level reduction in individuals with a second VWF mutation and it also contributes to population variance in VWF and FVIII levels according to a 2010 publication.[PMID 20492463OA-icon.png]

This SNP is referred to as i5049145 by 23andMe.

ClinVar
Risk rs33978901(T;T)
Alt rs33978901(T;T)
Reference rs33978901(C;C)
Significance Untested
Disease not provided
Variation info
Gene VWF
CLNDBN not provided
Reversed 0
HGVS NC_000012.11:g.6140659C>T
CLNSRC
CLNACC RCV000086632.1,