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rs1085307417

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome12
Position51916129
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307417
dbSNP (old)rs1085307417
ClinGenrs1085307417
ebirs1085307417
HLIrs1085307417
Exacrs1085307417
Gnomadrs1085307417
Varsomers1085307417
Maprs1085307417
PheGenIrs1085307417
Biobankrs1085307417
1000 genomesrs1085307417
hgdprs1085307417
ensemblrs1085307417
gopubmedrs1085307417
geneviewrs1085307417
scholarrs1085307417
googlers1085307417
pharmgkbrs1085307417
gwascentralrs1085307417
openSNPrs1085307417
23andMers1085307417
23andMe allrs1085307417
SNPshotrs1085307417
SNPdbers1085307417
MSV3drs1085307417
GWAS Ctlgrs1085307417
Max Magnitude0
ClinVar
Risk rs1085307417(C;C)
Alt rs1085307417(C;C)
Reference Rs1085307417(T;T)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene ACVRL1
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000012.11:g.52309913T>C
CLNSRC
CLNACC RCV000488581.1,