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rs1085307423

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome12
Position51920769
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1085307423
dbSNP (old)rs1085307423
ClinGenrs1085307423
ebirs1085307423
HLIrs1085307423
Exacrs1085307423
Gnomadrs1085307423
Varsomers1085307423
Maprs1085307423
PheGenIrs1085307423
Biobankrs1085307423
1000 genomesrs1085307423
hgdprs1085307423
ensemblrs1085307423
gopubmedrs1085307423
geneviewrs1085307423
scholarrs1085307423
googlers1085307423
pharmgkbrs1085307423
gwascentralrs1085307423
openSNPrs1085307423
23andMers1085307423
23andMe allrs1085307423
SNPshotrs1085307423
SNPdbers1085307423
MSV3drs1085307423
GWAS Ctlgrs1085307423
Max Magnitude0
ClinVar
Risk rs1085307423(-;-)
Alt rs1085307423(-;-)
Reference Rs1085307423(G;G)
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.52314553delG
CLNSRC
CLNACC RCV000488779.1,