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rs121908729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908729(C;T)
Make rs121908729(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44622911
GeneADA
is asnp
is mentioned by
dbSNPrs121908729
ebirs121908729
HLIrs121908729
Exacrs121908729
Varsomers121908729
Maprs121908729
PheGenIrs121908729
hapmaprs121908729
1000 genomesrs121908729
hgdprs121908729
ensemblrs121908729
gopubmedrs121908729
geneviewrs121908729
scholarrs121908729
googlers121908729
pharmgkbrs121908729
gwascentralrs121908729
openSNPrs121908729
23andMers121908729
23andMe allrs121908729
SNP Nexus

SNPshotrs121908729
SNPdbers121908729
MSV3drs121908729
GWAS Ctlgrs121908729
Merged fromRs28930973
Max Magnitude0
OMIM608958
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121908729(T;T)
Alt rs121908729(T;T)
Reference rs121908729(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.43251552G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002057.2, RCV000059113.1,


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