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rs1085307416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome12
Position51916111
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307416
dbSNP (old)rs1085307416
ClinGenrs1085307416
ebirs1085307416
HLIrs1085307416
Exacrs1085307416
Gnomadrs1085307416
Varsomers1085307416
Maprs1085307416
PheGenIrs1085307416
Biobankrs1085307416
1000 genomesrs1085307416
hgdprs1085307416
ensemblrs1085307416
gopubmedrs1085307416
geneviewrs1085307416
scholarrs1085307416
googlers1085307416
pharmgkbrs1085307416
gwascentralrs1085307416
openSNPrs1085307416
23andMers1085307416
23andMe allrs1085307416
SNPshotrs1085307416
SNPdbers1085307416
MSV3drs1085307416
GWAS Ctlgrs1085307416
Max Magnitude0
ClinVar
Risk rs1085307416(G;G)
Alt rs1085307416(G;G)
Reference Rs1085307416(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.52309895A>G
CLNSRC
CLNACC RCV000488853.1,