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rs1085307409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome12
Position51915270
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307409
dbSNP (old)rs1085307409
ClinGenrs1085307409
ebirs1085307409
HLIrs1085307409
Exacrs1085307409
Gnomadrs1085307409
Varsomers1085307409
Maprs1085307409
PheGenIrs1085307409
Biobankrs1085307409
1000 genomesrs1085307409
hgdprs1085307409
ensemblrs1085307409
gopubmedrs1085307409
geneviewrs1085307409
scholarrs1085307409
googlers1085307409
pharmgkbrs1085307409
gwascentralrs1085307409
openSNPrs1085307409
23andMers1085307409
23andMe allrs1085307409
SNPshotrs1085307409
SNPdbers1085307409
MSV3drs1085307409
GWAS Ctlgrs1085307409
Max Magnitude0
ClinVar
Risk rs1085307409(C;C)
Alt rs1085307409(C;C)
Reference Rs1085307409(T;T)
Significance Pathogenic
Disease Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ACVRL1
CLNDBN Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 0
HGVS NC_000012.11:g.52309054T>C
CLNSRC
CLNACC RCV000488783.1,