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rs1085307431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome9
Position127825259
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs1085307431
dbSNP (old)rs1085307431
ClinGenrs1085307431
ebirs1085307431
HLIrs1085307431
Exacrs1085307431
Gnomadrs1085307431
Varsomers1085307431
LitVarrs1085307431
Maprs1085307431
PheGenIrs1085307431
Biobankrs1085307431
1000 genomesrs1085307431
hgdprs1085307431
ensemblrs1085307431
gopubmedrs1085307431
geneviewrs1085307431
scholarrs1085307431
googlers1085307431
pharmgkbrs1085307431
gwascentralrs1085307431
openSNPrs1085307431
23andMers1085307431
23andMe allrs1085307431
SNPshotrs1085307431
SNPdbers1085307431
MSV3drs1085307431
GWAS Ctlgrs1085307431
Max Magnitude0
ClinVar
Risk rs1085307431(A;A)
Alt rs1085307431(A;A)
Reference Rs1085307431(T;T)
Significance Pathogenic
Disease Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ENG
CLNDBN Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 1
HGVS NC_000009.11:g.130587538A>T
CLNSRC
CLNACC RCV000488736.1,