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rs121908717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908717(C;T)
Make rs121908717(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626517
GeneADA
is asnp
is mentioned by
dbSNPrs121908717
ebirs121908717
HLIrs121908717
Exacrs121908717
Varsomers121908717
Maprs121908717
PheGenIrs121908717
hapmaprs121908717
1000 genomesrs121908717
hgdprs121908717
ensemblrs121908717
gopubmedrs121908717
geneviewrs121908717
scholarrs121908717
googlers121908717
pharmgkbrs121908717
gwascentralrs121908717
openSNPrs121908717
23andMers121908717
23andMe allrs121908717
SNP Nexus

SNPshotrs121908717
SNPdbers121908717
MSV3drs121908717
GWAS Ctlgrs121908717
Max Magnitude0
OMIM608958
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908717(T;T)
Alt rs121908717(T;T)
Reference rs121908717(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.43255158G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002032.3,


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