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rs1085307404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51912511
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307404
dbSNP (old)rs1085307404
ClinGenrs1085307404
ebirs1085307404
HLIrs1085307404
Exacrs1085307404
Gnomadrs1085307404
Varsomers1085307404
Maprs1085307404
PheGenIrs1085307404
Biobankrs1085307404
1000 genomesrs1085307404
hgdprs1085307404
ensemblrs1085307404
gopubmedrs1085307404
geneviewrs1085307404
scholarrs1085307404
googlers1085307404
pharmgkbrs1085307404
gwascentralrs1085307404
openSNPrs1085307404
23andMers1085307404
23andMe allrs1085307404
SNPshotrs1085307404
SNPdbers1085307404
MSV3drs1085307404
GWAS Ctlgrs1085307404
Max Magnitude0
ClinVar
Risk rs1085307404(-;-)
Alt rs1085307404(-;-)
Reference Rs1085307404(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.52306295delC
CLNSRC
CLNACC RCV000488723.1,