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rs1085307433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome9
Position127818734
GeneENG, LOC102723566
is asnp
is mentioned by
dbSNPrs1085307433
dbSNP (classic)rs1085307433
ClinGenrs1085307433
ebirs1085307433
HLIrs1085307433
Exacrs1085307433
Gnomadrs1085307433
Varsomers1085307433
LitVarrs1085307433
Maprs1085307433
PheGenIrs1085307433
Biobankrs1085307433
1000 genomesrs1085307433
hgdprs1085307433
ensemblrs1085307433
geneviewrs1085307433
scholarrs1085307433
googlers1085307433
pharmgkbrs1085307433
gwascentralrs1085307433
openSNPrs1085307433
23andMers1085307433
SNPshotrs1085307433
SNPdbers1085307433
MSV3drs1085307433
GWAS Ctlgrs1085307433
Max Magnitude0
ClinVar
Risk rs1085307433(-;-)
Alt rs1085307433(-;-)
Reference Rs1085307433(G;G)
Significance Pathogenic
Disease Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ENG LOC102723566
CLNDBN Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 1
HGVS NC_000009.11:g.130581013delC
CLNSRC
CLNACC RCV000488597.1,