Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 4 hereditary hemorrhagic telangiectasia
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position127829687
GeneENG
is asnp
is mentioned by
dbSNPrs121918402
ebirs121918402
HLIrs121918402
Exacrs121918402
Varsomers121918402
Maprs121918402
PheGenIrs121918402
hapmaprs121918402
1000 genomesrs121918402
hgdprs121918402
ensemblrs121918402
gopubmedrs121918402
geneviewrs121918402
scholarrs121918402
googlers121918402
pharmgkbrs121918402
gwascentralrs121918402
openSNPrs121918402
23andMers121918402
23andMe allrs121918402
SNP Nexus

SNPshotrs121918402
SNPdbers121918402
MSV3drs121918402
GWAS Ctlgrs121918402
Max Magnitude4
OMIM131195
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918402(A,T;A,T)
Alt rs121918402(A,T;A,T)
Reference rs121918402(C;C)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130591966G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018156.28,