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rs121909286

From SNPedia

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


Make rs121909286(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916180
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909286
ebirs121909286
HLIrs121909286
Exacrs121909286
Varsomers121909286
Maprs121909286
PheGenIrs121909286
hapmaprs121909286
1000 genomesrs121909286
hgdprs121909286
ensemblrs121909286
gopubmedrs121909286
geneviewrs121909286
scholarrs121909286
googlers121909286
pharmgkbrs121909286
gwascentralrs121909286
openSNPrs121909286
23andMers121909286
23andMe allrs121909286
SNP Nexus

SNPshotrs121909286
SNPdbers121909286
MSV3drs121909286
GWAS Ctlgrs121909286
Merged fromRs28936400
Max Magnitude4
OMIM601284
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909286(A;A)
Alt rs121909286(A;A)
Reference rs121909286(T;T)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2
Reversed 0
HGVS NC_000012.11:g.52309964T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008732.3,