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rs121908722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908722(A;A)
Make rs121908722(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44625580
GeneADA
is asnp
is mentioned by
dbSNPrs121908722
ebirs121908722
HLIrs121908722
Exacrs121908722
Varsomers121908722
Maprs121908722
PheGenIrs121908722
hapmaprs121908722
1000 genomesrs121908722
hgdprs121908722
ensemblrs121908722
gopubmedrs121908722
geneviewrs121908722
scholarrs121908722
googlers121908722
pharmgkbrs121908722
gwascentralrs121908722
openSNPrs121908722
23andMers121908722
23andMe allrs121908722
SNP Nexus

SNPshotrs121908722
SNPdbers121908722
MSV3drs121908722
GWAS Ctlgrs121908722
Max Magnitude0
OMIM608958
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121908722(A;A)
Alt rs121908722(A;A)
Reference rs121908722(G;G)
Significance Pathogenic
Disease SCID due to ADA deficiency Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN SCID due to ADA deficiency, delayed onset Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43254221C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002061.2, RCV000059106.1,


[PMID 8227344OA-icon.png] Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.