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rs142896669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142896669(C;T)
Make rs142896669(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127818173
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs142896669
dbSNP (classic)rs142896669
ClinGenrs142896669
ebirs142896669
HLIrs142896669
Exacrs142896669
Gnomadrs142896669
Varsomers142896669
LitVarrs142896669
Maprs142896669
PheGenIrs142896669
Biobankrs142896669
1000 genomesrs142896669
hgdprs142896669
ensemblrs142896669
geneviewrs142896669
scholarrs142896669
googlers142896669
pharmgkbrs142896669
gwascentralrs142896669
openSNPrs142896669
23andMers142896669
SNPshotrs142896669
SNPdbers142896669
MSV3drs142896669
GWAS Ctlgrs142896669
Max Magnitude0
ClinVar
Risk rs142896669(T;T)
Alt rs142896669(T;T)
Reference Rs142896669(C;C)
Significance Pathogenic
Disease Osler hemorrhagic telangiectasia syndrome not specified Primary pulmonary hypertension
Variation info
Gene ENG LOC102723566
CLNDBN Osler hemorrhagic telangiectasia syndrome not specified Primary pulmonary hypertension
Reversed 0
HGVS NC_000009.11:g.130580452C>T
CLNSRC
CLNACC RCV000226902.2, RCV000454429.1, RCV000488732.1,