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rs1085307424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51920771
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307424
dbSNP (old)rs1085307424
ClinGenrs1085307424
ebirs1085307424
HLIrs1085307424
Exacrs1085307424
Gnomadrs1085307424
Varsomers1085307424
Maprs1085307424
PheGenIrs1085307424
Biobankrs1085307424
1000 genomesrs1085307424
hgdprs1085307424
ensemblrs1085307424
gopubmedrs1085307424
geneviewrs1085307424
scholarrs1085307424
googlers1085307424
pharmgkbrs1085307424
gwascentralrs1085307424
openSNPrs1085307424
23andMers1085307424
23andMe allrs1085307424
SNPshotrs1085307424
SNPdbers1085307424
MSV3drs1085307424
GWAS Ctlgrs1085307424
Max Magnitude0
ClinVar
Risk rs1085307424(-;-)
Alt rs1085307424(-;-)
Reference Rs1085307424(C;C)
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.52314555delC
CLNSRC
CLNACC RCV000488490.1,