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rs1085307405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51913236
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307405
dbSNP (old)rs1085307405
ClinGenrs1085307405
ebirs1085307405
HLIrs1085307405
Exacrs1085307405
Gnomadrs1085307405
Varsomers1085307405
LitVarrs1085307405
Maprs1085307405
PheGenIrs1085307405
Biobankrs1085307405
1000 genomesrs1085307405
hgdprs1085307405
ensemblrs1085307405
gopubmedrs1085307405
geneviewrs1085307405
scholarrs1085307405
googlers1085307405
pharmgkbrs1085307405
gwascentralrs1085307405
openSNPrs1085307405
23andMers1085307405
23andMe allrs1085307405
SNPshotrs1085307405
SNPdbers1085307405
MSV3drs1085307405
GWAS Ctlgrs1085307405
Max Magnitude0
ClinVar
Risk rs1085307405(T;T)
Alt rs1085307405(T;T)
Reference Rs1085307405(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.52307020C>T
CLNSRC
CLNACC RCV000488479.1,