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rs121909290

From SNPedia

Merged intors121909284
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909290(C;C)
Make rs121909290(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916219
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909290
dbSNP (classic)rs121909290
ClinGenrs121909290
ebirs121909290
HLIrs121909290
Exacrs121909290
Gnomadrs121909290
Varsomers121909290
LitVarrs121909290
Maprs121909290
PheGenIrs121909290
Biobankrs121909290
1000 genomesrs121909290
hgdprs121909290
ensemblrs121909290
geneviewrs121909290
scholarrs121909290
googlers121909290
pharmgkbrs121909290
gwascentralrs121909290
openSNPrs121909290
23andMers121909290
SNPshotrs121909290
SNPdbers121909290
MSV3drs121909290
GWAS Ctlgrs121909290
StatusMerged into rs121909284
Max Magnitude0
OMIM601284
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909290(C;C)
Alt rs121909290(C;C)
Reference Rs121909290(G;G)
Significance Pathogenic
Disease
Variation info
Gene ACVRL1
CLNDBN
Reversed 0
HGVS NC_000012.11:g.52310003G>C
CLNSRC
CLNACC