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rs61749398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 2M
(A;G) 3 Von Willebrand disease, type 2M
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6019448
GeneVWF
is asnp
is mentioned by
dbSNPrs61749398
ebirs61749398
HLIrs61749398
Exacrs61749398
Varsomers61749398
Maprs61749398
PheGenIrs61749398
hapmaprs61749398
1000 genomesrs61749398
hgdprs61749398
ensemblrs61749398
gopubmedrs61749398
geneviewrs61749398
scholarrs61749398
googlers61749398
pharmgkbrs61749398
gwascentralrs61749398
openSNPrs61749398
23andMers61749398
23andMe allrs61749398
SNP Nexus

SNPshotrs61749398
SNPdbers61749398
MSV3drs61749398
GWAS Ctlgrs61749398
Max Magnitude3

rs61749398, also known as c.3970G>A, p.Gly1324Ser and G1324S, is a SNP in the VWF gene on chromosome 12.

The rare rs61749398(A) allele is considered pathogenic for Von Willebrand disease, type 2M, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049157 by 23andMe.

OMIM613160
Desc
Variant0018
Relatedalso


ClinVar
Risk rs61749398(A;A)
Alt rs61749398(A;A)
Reference rs61749398(G;G)
Significance Pathogenic
Disease von Willebrand disease type 2M not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 2M not provided
Reversed 1
HGVS NC_000012.11:g.6128614C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000327.2, RCV000086716.1,