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rs121908723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908723(A;A)
Make rs121908723(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44623039
GeneADA
is asnp
is mentioned by
dbSNPrs121908723
ebirs121908723
HLIrs121908723
Exacrs121908723
Varsomers121908723
Maprs121908723
PheGenIrs121908723
hapmaprs121908723
1000 genomesrs121908723
hgdprs121908723
ensemblrs121908723
gopubmedrs121908723
geneviewrs121908723
scholarrs121908723
googlers121908723
pharmgkbrs121908723
gwascentralrs121908723
openSNPrs121908723
23andMers121908723
23andMe allrs121908723
SNP Nexus

SNPshotrs121908723
SNPdbers121908723
MSV3drs121908723
GWAS Ctlgrs121908723
Max Magnitude0
OMIM608958
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908723(A;A)
Alt rs121908723(A;A)
Reference rs121908723(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.43251680C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002045.3,


[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.