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rs150932144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150932144(C;T)
Make rs150932144(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127825744
GeneENG, LOC105379841
is asnp
is mentioned by
dbSNPrs150932144
dbSNP (classic)rs150932144
ClinGenrs150932144
ebirs150932144
HLIrs150932144
Exacrs150932144
Gnomadrs150932144
Varsomers150932144
LitVarrs150932144
Maprs150932144
PheGenIrs150932144
Biobankrs150932144
1000 genomesrs150932144
hgdprs150932144
ensemblrs150932144
geneviewrs150932144
scholarrs150932144
googlers150932144
pharmgkbrs150932144
gwascentralrs150932144
openSNPrs150932144
23andMers150932144
SNPshotrs150932144
SNPdbers150932144
MSV3drs150932144
GWAS Ctlgrs150932144
Max Magnitude0
ClinVar
Risk rs150932144(T;T)
Alt rs150932144(T;T)
Reference Rs150932144(C;C)
Significance Pathogenic
Disease Haemorrhagic telangiectasia 1 Osler hemorrhagic telangiectasia syndrome Primary pulmonary hypertension
Variation info
Gene ENG
CLNDBN Haemorrhagic telangiectasia 1 Osler hemorrhagic telangiectasia syndrome Primary pulmonary hypertension
Reversed 0
HGVS NC_000009.11:g.130588023C>T
CLNSRC
CLNACC RCV000148487.1, RCV000457880.1, RCV000488867.1,