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rs61749370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Von Willebrand disease, type 2B
(T;T) 3 Von Willebrand disease, type 2B
ReferenceGRCh38 38.1/141
Chromosome12
Position6019621
GeneVWF
is asnp
is mentioned by
dbSNPrs61749370
ebirs61749370
HLIrs61749370
Exacrs61749370
Varsomers61749370
Maprs61749370
PheGenIrs61749370
hapmaprs61749370
1000 genomesrs61749370
hgdprs61749370
ensemblrs61749370
gopubmedrs61749370
geneviewrs61749370
scholarrs61749370
googlers61749370
pharmgkbrs61749370
gwascentralrs61749370
openSNPrs61749370
23andMers61749370
23andMe allrs61749370
SNP Nexus

SNPshotrs61749370
SNPdbers61749370
MSV3drs61749370
GWAS Ctlgrs61749370
Max Magnitude3

rs61749370, also known as c.3797C>T, p.Pro1266Leu and P1266L, is a SNP in the VWF gene on chromosome 12.

The rare rs61749370(T) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.


ClinVar
Risk rs61749370(A,T;A,T)
Alt rs61749370(A,T;A,T)
Reference rs61749370(C;C)
Significance Pathogenic
Disease von Willebrand disease not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease, type 2b not provided
Reversed 1
HGVS NC_000012.11:g.6128787G>A; NC_000012.11:g.6128787G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000342.4, RCV000086676.1, RCV000086675.1,