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rs1085307430

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TCGGC;TCGGC) 0 common in clinvar
Chromosome9
Position127825698
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs1085307430
dbSNP (old)rs1085307430
ClinGenrs1085307430
ebirs1085307430
HLIrs1085307430
Exacrs1085307430
Gnomadrs1085307430
Varsomers1085307430
Maprs1085307430
PheGenIrs1085307430
Biobankrs1085307430
1000 genomesrs1085307430
hgdprs1085307430
ensemblrs1085307430
gopubmedrs1085307430
geneviewrs1085307430
scholarrs1085307430
googlers1085307430
pharmgkbrs1085307430
gwascentralrs1085307430
openSNPrs1085307430
23andMers1085307430
23andMe allrs1085307430
SNPshotrs1085307430
SNPdbers1085307430
MSV3drs1085307430
GWAS Ctlgrs1085307430
Max Magnitude0
ClinVar
Risk rs1085307430(-;-)
Alt rs1085307430(-;-)
Reference Rs1085307430(TCGGC;TCGGC)
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.130587977_130587981delGCCGA
CLNSRC
CLNACC RCV000488603.1,