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

rs121909284

From SNPedia

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


Make rs121909284(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916219
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909284
dbSNP (old)rs121909284
ClinGenrs121909284
ebirs121909284
HLIrs121909284
Exacrs121909284
Gnomadrs121909284
Varsomers121909284
Maprs121909284
PheGenIrs121909284
Biobankrs121909284
1000 genomesrs121909284
hgdprs121909284
ensemblrs121909284
gopubmedrs121909284
geneviewrs121909284
scholarrs121909284
googlers121909284
pharmgkbrs121909284
gwascentralrs121909284
openSNPrs121909284
23andMers121909284
23andMe allrs121909284
SNP Nexus

SNPshotrs121909284
SNPdbers121909284
MSV3drs121909284
GWAS Ctlgrs121909284
Merged fromRs121909290, Rs28936398
Max Magnitude4
OMIM601284
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909284(A;A) rs121909284(C;C)
Alt rs121909284(A;A) rs121909284(C;C)
Reference Rs121909284(G;G)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type II
Reversed 0
HGVS NC_000012.11:g.52310003G>A; NC_000012.11:g.52310003G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008726.2, RCV000008727.2, RCV000008746.2,