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rs121908714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908714(A;A)
Make rs121908714(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626516
GeneADA
is asnp
is mentioned by
dbSNPrs121908714
ebirs121908714
HLIrs121908714
Exacrs121908714
Varsomers121908714
Maprs121908714
PheGenIrs121908714
hapmaprs121908714
1000 genomesrs121908714
hgdprs121908714
ensemblrs121908714
gopubmedrs121908714
geneviewrs121908714
scholarrs121908714
googlers121908714
pharmgkbrs121908714
gwascentralrs121908714
openSNPrs121908714
23andMers121908714
23andMe allrs121908714
SNP Nexus

SNPshotrs121908714
SNPdbers121908714
MSV3drs121908714
GWAS Ctlgrs121908714
Merged fromRs28930970
Max Magnitude0
OMIM608958
Desc
Variant0003
Relatedalso
OMIM102700
Desc
Variant
Relatedalso
ClinVar
Risk rs121908714(A,C,T;A,C,T)
Alt rs121908714(A,C,T;A,C,T)
Reference rs121908714(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.43255157C>A; NC_000020.10:g.43255157C>T
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059098.1, RCV000002033.3,


[PMID 3839802OA-icon.png] Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.


[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.