Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908721(C;T)
Make rs121908721(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44621121
GeneADA
is asnp
is mentioned by
dbSNPrs121908721
ebirs121908721
HLIrs121908721
Exacrs121908721
Varsomers121908721
Maprs121908721
PheGenIrs121908721
hapmaprs121908721
1000 genomesrs121908721
hgdprs121908721
ensemblrs121908721
gopubmedrs121908721
geneviewrs121908721
scholarrs121908721
googlers121908721
pharmgkbrs121908721
gwascentralrs121908721
openSNPrs121908721
23andMers121908721
23andMe allrs121908721
SNP Nexus

SNPshotrs121908721
SNPdbers121908721
MSV3drs121908721
GWAS Ctlgrs121908721
Max Magnitude0
OMIM608958
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908721(G,T;G,T)
Alt rs121908721(G,T;G,T)
Reference rs121908721(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency disease
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency disease
Reversed 1
HGVS NC_000020.10:g.43249762G>A; NC_000020.10:g.43249762G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002048.3, RCV000029302.1,


[PMID 1284479] Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.


[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.