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rs1085307429

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome12
Position51920849
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307429
dbSNP (old)rs1085307429
ClinGenrs1085307429
ebirs1085307429
HLIrs1085307429
Exacrs1085307429
Gnomadrs1085307429
Varsomers1085307429
Maprs1085307429
PheGenIrs1085307429
Biobankrs1085307429
1000 genomesrs1085307429
hgdprs1085307429
ensemblrs1085307429
gopubmedrs1085307429
geneviewrs1085307429
scholarrs1085307429
googlers1085307429
pharmgkbrs1085307429
gwascentralrs1085307429
openSNPrs1085307429
23andMers1085307429
23andMe allrs1085307429
SNPshotrs1085307429
SNPdbers1085307429
MSV3drs1085307429
GWAS Ctlgrs1085307429
Max Magnitude0
ClinVar
Risk rs1085307429(T;T)
Alt rs1085307429(T;T)
Reference Rs1085307429(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.52314633C>T
CLNSRC
CLNACC RCV000488710.1,