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rs1085307426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome12
Position51920817
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307426
dbSNP (classic)rs1085307426
ClinGenrs1085307426
ebirs1085307426
HLIrs1085307426
Exacrs1085307426
Gnomadrs1085307426
Varsomers1085307426
LitVarrs1085307426
Maprs1085307426
PheGenIrs1085307426
Biobankrs1085307426
1000 genomesrs1085307426
hgdprs1085307426
ensemblrs1085307426
geneviewrs1085307426
scholarrs1085307426
googlers1085307426
pharmgkbrs1085307426
gwascentralrs1085307426
openSNPrs1085307426
23andMers1085307426
23andMe allrs1085307426
SNPshotrs1085307426
SNPdbers1085307426
MSV3drs1085307426
GWAS Ctlgrs1085307426
Max Magnitude0
ClinVar
Risk rs1085307426(C;C)
Alt rs1085307426(C;C)
Reference Rs1085307426(G;G)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene ACVRL1
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000012.11:g.52314601G>A; NC_000012.11:g.52314601G>C
CLNSRC
CLNACC RCV000488513.1, RCV000488694.1,