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rs1085307428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome12
Position51920841
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307428
dbSNP (old)rs1085307428
ClinGenrs1085307428
ebirs1085307428
HLIrs1085307428
Exacrs1085307428
Gnomadrs1085307428
Varsomers1085307428
Maprs1085307428
PheGenIrs1085307428
Biobankrs1085307428
1000 genomesrs1085307428
hgdprs1085307428
ensemblrs1085307428
gopubmedrs1085307428
geneviewrs1085307428
scholarrs1085307428
googlers1085307428
pharmgkbrs1085307428
gwascentralrs1085307428
openSNPrs1085307428
23andMers1085307428
23andMe allrs1085307428
SNPshotrs1085307428
SNPdbers1085307428
MSV3drs1085307428
GWAS Ctlgrs1085307428
Max Magnitude0
ClinVar
Risk rs1085307428(C;C)
Alt rs1085307428(C;C)
Reference Rs1085307428(A;A)
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.52314625A>C
CLNSRC
CLNACC RCV000488579.1,