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rs1085307421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome12
Position51919062
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307421
dbSNP (old)rs1085307421
ClinGenrs1085307421
ebirs1085307421
HLIrs1085307421
Exacrs1085307421
Gnomadrs1085307421
Varsomers1085307421
LitVarrs1085307421
Maprs1085307421
PheGenIrs1085307421
Biobankrs1085307421
1000 genomesrs1085307421
hgdprs1085307421
ensemblrs1085307421
gopubmedrs1085307421
geneviewrs1085307421
scholarrs1085307421
googlers1085307421
pharmgkbrs1085307421
gwascentralrs1085307421
openSNPrs1085307421
23andMers1085307421
23andMe allrs1085307421
SNPshotrs1085307421
SNPdbers1085307421
MSV3drs1085307421
GWAS Ctlgrs1085307421
Max Magnitude0
ClinVar
Risk rs1085307421(A;A)
Alt rs1085307421(A;A)
Reference Rs1085307421(G;G)
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.52312846G>A
CLNSRC
CLNACC RCV000488495.1,