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rs61749397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 2B
(A;G) 3 Von Willebrand disease, type 2B
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6019472
GeneVWF
is asnp
is mentioned by
dbSNPrs61749397
ebirs61749397
HLIrs61749397
Exacrs61749397
Varsomers61749397
Maprs61749397
PheGenIrs61749397
hapmaprs61749397
1000 genomesrs61749397
hgdprs61749397
ensemblrs61749397
gopubmedrs61749397
geneviewrs61749397
scholarrs61749397
googlers61749397
pharmgkbrs61749397
gwascentralrs61749397
openSNPrs61749397
23andMers61749397
23andMe allrs61749397
SNP Nexus

SNPshotrs61749397
SNPdbers61749397
MSV3drs61749397
GWAS Ctlgrs61749397
Max Magnitude3

rs61749397, also known as c.3946G>A, p.Val1316Met and V1316M, is a SNP in the VWF gene on chromosome 12.

The rare rs61749397(A) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049165 by 23andMe.

OMIM613160
Desc
Variant0007
Relatedalso


ClinVar
Risk rs61749397(A,C;A,C)
Alt rs61749397(A,C;A,C)
Reference rs61749397(G;G)
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.6128638C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000314.3, RCV000086715.1,