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rs121908739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908739(C;C)
Make rs121908739(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626498
GeneADA
is asnp
is mentioned by
dbSNPrs121908739
ebirs121908739
HLIrs121908739
Exacrs121908739
Varsomers121908739
Maprs121908739
PheGenIrs121908739
hapmaprs121908739
1000 genomesrs121908739
hgdprs121908739
ensemblrs121908739
gopubmedrs121908739
geneviewrs121908739
scholarrs121908739
googlers121908739
pharmgkbrs121908739
gwascentralrs121908739
openSNPrs121908739
23andMers121908739
23andMe allrs121908739
SNP Nexus

SNPshotrs121908739
SNPdbers121908739
MSV3drs121908739
GWAS Ctlgrs121908739
Max Magnitude0
OMIM608958
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908739(C;C)
Alt rs121908739(C;C)
Reference rs121908739(T;T)
Significance Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43255139A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002042.3,


[PMID 2166947OA-icon.png] Hot spot mutations in adenosine deaminase deficiency.