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rs1085307408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome12
Position51915240
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307408
dbSNP (old)rs1085307408
ClinGenrs1085307408
ebirs1085307408
HLIrs1085307408
Exacrs1085307408
Gnomadrs1085307408
Varsomers1085307408
Maprs1085307408
PheGenIrs1085307408
Biobankrs1085307408
1000 genomesrs1085307408
hgdprs1085307408
ensemblrs1085307408
gopubmedrs1085307408
geneviewrs1085307408
scholarrs1085307408
googlers1085307408
pharmgkbrs1085307408
gwascentralrs1085307408
openSNPrs1085307408
23andMers1085307408
23andMe allrs1085307408
SNPshotrs1085307408
SNPdbers1085307408
MSV3drs1085307408
GWAS Ctlgrs1085307408
Max Magnitude0
ClinVar
Risk rs1085307408(G;G)
Alt rs1085307408(G;G)
Reference Rs1085307408(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.52309024A>G
CLNSRC
CLNACC RCV000488626.1,