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rs121909289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 4
(G;G) 0 common in clinvar


Make rs121909289(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916183
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909289
ebirs121909289
HLIrs121909289
Exacrs121909289
Varsomers121909289
Maprs121909289
PheGenIrs121909289
hapmaprs121909289
1000 genomesrs121909289
hgdprs121909289
ensemblrs121909289
gopubmedrs121909289
geneviewrs121909289
scholarrs121909289
googlers121909289
pharmgkbrs121909289
gwascentralrs121909289
openSNPrs121909289
23andMers121909289
23andMe allrs121909289
SNP Nexus

SNPshotrs121909289
SNPdbers121909289
MSV3drs121909289
GWAS Ctlgrs121909289
Merged fromRs28936402
Max Magnitude4
OMIM601284
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909289(C;C)
Alt rs121909289(C;C)
Reference rs121909289(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.52309967G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008744.2,