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rs121918401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 hereditary hemorrhagic telangiectasia
ReferenceGRCh38 38.1/141
Chromosome9
Position127819934
GeneENG, LOC100506040
is asnp
is mentioned by
dbSNPrs121918401
ebirs121918401
HLIrs121918401
Exacrs121918401
Varsomers121918401
Maprs121918401
PheGenIrs121918401
hapmaprs121918401
1000 genomesrs121918401
hgdprs121918401
ensemblrs121918401
gopubmedrs121918401
geneviewrs121918401
scholarrs121918401
googlers121918401
pharmgkbrs121918401
gwascentralrs121918401
openSNPrs121918401
23andMers121918401
23andMe allrs121918401
SNP Nexus

SNPshotrs121918401
SNPdbers121918401
MSV3drs121918401
GWAS Ctlgrs121918401
Max Magnitude3
OMIM131195
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918401(A,T;A,T)
Alt rs121918401(A,T;A,T)
Reference rs121918401(G;G)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome
Variation info
Gene ENG
CLNDBN Osler hemorrhagic telangiectasia syndrome
Reversed 1
HGVS NC_000009.11:g.130582213C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018154.28,