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rs121908715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908715(C;T)
Make rs121908715(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44620391
GeneADA
is asnp
is mentioned by
dbSNPrs121908715
ebirs121908715
HLIrs121908715
Exacrs121908715
Varsomers121908715
Maprs121908715
PheGenIrs121908715
hapmaprs121908715
1000 genomesrs121908715
hgdprs121908715
ensemblrs121908715
gopubmedrs121908715
geneviewrs121908715
scholarrs121908715
googlers121908715
pharmgkbrs121908715
gwascentralrs121908715
openSNPrs121908715
23andMers121908715
23andMe allrs121908715
SNP Nexus

SNPshotrs121908715
SNPdbers121908715
MSV3drs121908715
GWAS Ctlgrs121908715
Max Magnitude0
OMIM608958
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908715(T;T)
Alt rs121908715(T;T)
Reference rs121908715(C;C)
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.43249032G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002036.3, RCV000200442.1,


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