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

rs121908728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908728(A;A)
Make rs121908728(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position44625593
GeneADA
is asnp
is mentioned by
dbSNPrs121908728
ebirs121908728
HLIrs121908728
Exacrs121908728
Varsomers121908728
Maprs121908728
PheGenIrs121908728
hapmaprs121908728
1000 genomesrs121908728
hgdprs121908728
ensemblrs121908728
gopubmedrs121908728
geneviewrs121908728
scholarrs121908728
googlers121908728
pharmgkbrs121908728
gwascentralrs121908728
openSNPrs121908728
23andMers121908728
23andMe allrs121908728
SNP Nexus

SNPshotrs121908728
SNPdbers121908728
MSV3drs121908728
GWAS Ctlgrs121908728
Merged fromRs28930972
Max Magnitude0
OMIM608958
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121908728(A;A)
Alt rs121908728(A;A)
Reference rs121908728(C;C)
Significance Pathogenic
Disease Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43254234G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002056.2, RCV000059105.1,


[PMID 9225964] Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.