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rs1085307415

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51916042
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307415
dbSNP (old)rs1085307415
ClinGenrs1085307415
ebirs1085307415
HLIrs1085307415
Exacrs1085307415
Gnomadrs1085307415
Varsomers1085307415
Maprs1085307415
PheGenIrs1085307415
Biobankrs1085307415
1000 genomesrs1085307415
hgdprs1085307415
ensemblrs1085307415
gopubmedrs1085307415
geneviewrs1085307415
scholarrs1085307415
googlers1085307415
pharmgkbrs1085307415
gwascentralrs1085307415
openSNPrs1085307415
23andMers1085307415
23andMe allrs1085307415
SNPshotrs1085307415
SNPdbers1085307415
MSV3drs1085307415
GWAS Ctlgrs1085307415
Max Magnitude0
ClinVar
Risk rs1085307415(A;A)
Alt rs1085307415(A;A)
Reference Rs1085307415(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.52309826C>A
CLNSRC
CLNACC RCV000488852.1,