Have questions? Visit https://www.reddit.com/r/SNPedia

rs1085307422

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51920766
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307422
dbSNP (old)rs1085307422
ClinGenrs1085307422
ebirs1085307422
HLIrs1085307422
Exacrs1085307422
Gnomadrs1085307422
Varsomers1085307422
Maprs1085307422
PheGenIrs1085307422
Biobankrs1085307422
1000 genomesrs1085307422
hgdprs1085307422
ensemblrs1085307422
gopubmedrs1085307422
geneviewrs1085307422
scholarrs1085307422
googlers1085307422
pharmgkbrs1085307422
gwascentralrs1085307422
openSNPrs1085307422
23andMers1085307422
23andMe allrs1085307422
SNPshotrs1085307422
SNPdbers1085307422
MSV3drs1085307422
GWAS Ctlgrs1085307422
Max Magnitude0
ClinVar
Risk rs1085307422(G;G)
Alt rs1085307422(G;G)
Reference Rs1085307422(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.52314550C>G
CLNSRC
CLNACC RCV000488647.1,