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rs121918400

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 hereditary hemorrhagic telangiectasia
ReferenceGRCh38 38.1/141
Chromosome9
Position127824960
GeneENG
is asnp
is mentioned by
dbSNPrs121918400
ebirs121918400
HLIrs121918400
Exacrs121918400
Varsomers121918400
Maprs121918400
PheGenIrs121918400
hapmaprs121918400
1000 genomesrs121918400
hgdprs121918400
ensemblrs121918400
gopubmedrs121918400
geneviewrs121918400
scholarrs121918400
googlers121918400
pharmgkbrs121918400
gwascentralrs121918400
openSNPrs121918400
23andMers121918400
23andMe allrs121918400
SNP Nexus

SNPshotrs121918400
SNPdbers121918400
MSV3drs121918400
GWAS Ctlgrs121918400
Max Magnitude4
OMIM131195
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918400(G,T;G,T)
Alt rs121918400(G,T;G,T)
Reference rs121918400(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.130587239G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018148.28,