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rs1085307418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome12
Position51916182
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307418
dbSNP (old)rs1085307418
ClinGenrs1085307418
ebirs1085307418
HLIrs1085307418
Exacrs1085307418
Gnomadrs1085307418
Varsomers1085307418
Maprs1085307418
PheGenIrs1085307418
Biobankrs1085307418
1000 genomesrs1085307418
hgdprs1085307418
ensemblrs1085307418
gopubmedrs1085307418
geneviewrs1085307418
scholarrs1085307418
googlers1085307418
pharmgkbrs1085307418
gwascentralrs1085307418
openSNPrs1085307418
23andMers1085307418
23andMe allrs1085307418
SNPshotrs1085307418
SNPdbers1085307418
MSV3drs1085307418
GWAS Ctlgrs1085307418
Max Magnitude0
ClinVar
Risk rs1085307418(C;C)
Alt rs1085307418(C;C)
Reference Rs1085307418(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.52309966T>C
CLNSRC
CLNACC RCV000488764.1,