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rs387906745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 tendency for multiple cutaneous and mucosal venous malformations
(G;G) 0 common in clinvar


Make rs387906745(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position27212764
GeneTEK
is asnp
is mentioned by
dbSNPrs387906745
ebirs387906745
HLIrs387906745
Exacrs387906745
Varsomers387906745
Maprs387906745
PheGenIrs387906745
hapmaprs387906745
1000 genomesrs387906745
hgdprs387906745
ensemblrs387906745
gopubmedrs387906745
geneviewrs387906745
scholarrs387906745
googlers387906745
pharmgkbrs387906745
gwascentralrs387906745
openSNPrs387906745
23andMers387906745
23andMe allrs387906745
SNP Nexus

SNPshotrs387906745
SNPdbers387906745
MSV3drs387906745
GWAS Ctlgrs387906745
Max Magnitude5

rs387906745, also known as c.2744G>A, Arg915His and R915H, represents a mutation in the TEK gene on chromosome 9.

The rare minor allele for this SNP is reported to cause Multiple cutaneous and mucosal venous malformations.


ClinVar
Risk rs387906745(A;A)
Alt rs387906745(A;A)
Reference rs387906745(G;G)
Significance Pathogenic
Disease Multiple Cutaneous and Mucosal Venous Malformations
Variation info
Gene TEK
CLNDBN Multiple Cutaneous and Mucosal Venous Malformations
Reversed 0
HGVS NC_000009.11:g.27212762G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022956.4,