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rs1085307420

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome12
Position51919018
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307420
dbSNP (old)rs1085307420
ClinGenrs1085307420
ebirs1085307420
HLIrs1085307420
Exacrs1085307420
Gnomadrs1085307420
Varsomers1085307420
Maprs1085307420
PheGenIrs1085307420
Biobankrs1085307420
1000 genomesrs1085307420
hgdprs1085307420
ensemblrs1085307420
gopubmedrs1085307420
geneviewrs1085307420
scholarrs1085307420
googlers1085307420
pharmgkbrs1085307420
gwascentralrs1085307420
openSNPrs1085307420
23andMers1085307420
23andMe allrs1085307420
SNPshotrs1085307420
SNPdbers1085307420
MSV3drs1085307420
GWAS Ctlgrs1085307420
Max Magnitude0
ClinVar
Risk rs1085307420(T;T)
Alt rs1085307420(T;T)
Reference Rs1085307420(A;A)
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.52312802A>T
CLNSRC
CLNACC RCV000488738.1,