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rs1085307427

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51920831
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307427
dbSNP (old)rs1085307427
ClinGenrs1085307427
ebirs1085307427
HLIrs1085307427
Exacrs1085307427
Gnomadrs1085307427
Varsomers1085307427
Maprs1085307427
PheGenIrs1085307427
Biobankrs1085307427
1000 genomesrs1085307427
hgdprs1085307427
ensemblrs1085307427
gopubmedrs1085307427
geneviewrs1085307427
scholarrs1085307427
googlers1085307427
pharmgkbrs1085307427
gwascentralrs1085307427
openSNPrs1085307427
23andMers1085307427
23andMe allrs1085307427
SNPshotrs1085307427
SNPdbers1085307427
MSV3drs1085307427
GWAS Ctlgrs1085307427
Max Magnitude0
ClinVar
Risk rs1085307427(TG;TG)
Alt rs1085307427(TG;TG)
Reference Rs1085307427(C;C)
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.52314615delCinsTG
CLNSRC
CLNACC RCV000488689.1,