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rs121908716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908716(A;A)
Make rs121908716(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44623053
GeneADA
is asnp
is mentioned by
dbSNPrs121908716
ebirs121908716
HLIrs121908716
Exacrs121908716
Varsomers121908716
Maprs121908716
PheGenIrs121908716
hapmaprs121908716
1000 genomesrs121908716
hgdprs121908716
ensemblrs121908716
gopubmedrs121908716
geneviewrs121908716
scholarrs121908716
googlers121908716
pharmgkbrs121908716
gwascentralrs121908716
openSNPrs121908716
23andMers121908716
23andMe allrs121908716
SNP Nexus

SNPshotrs121908716
SNPdbers121908716
MSV3drs121908716
GWAS Ctlgrs121908716
Max Magnitude0
OMIM608958
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908716(A;A)
Alt rs121908716(A;A)
Reference rs121908716(G;G)
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.43251694C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002034.3,


[PMID 3182793] Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.