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rs1085307407

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome12
Position51914050
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307407
dbSNP (old)rs1085307407
ClinGenrs1085307407
ebirs1085307407
HLIrs1085307407
Exacrs1085307407
Gnomadrs1085307407
Varsomers1085307407
Maprs1085307407
PheGenIrs1085307407
Biobankrs1085307407
1000 genomesrs1085307407
hgdprs1085307407
ensemblrs1085307407
gopubmedrs1085307407
geneviewrs1085307407
scholarrs1085307407
googlers1085307407
pharmgkbrs1085307407
gwascentralrs1085307407
openSNPrs1085307407
23andMers1085307407
23andMe allrs1085307407
SNPshotrs1085307407
SNPdbers1085307407
MSV3drs1085307407
GWAS Ctlgrs1085307407
Max Magnitude0
ClinVar
Risk rs1085307407(G;G)
Alt rs1085307407(G;G)
Reference Rs1085307407(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.52307834A>G
CLNSRC
CLNACC RCV000488786.1,