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rs121908718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908718(A;A)
Make rs121908718(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position44621103
GeneADA
is asnp
is mentioned by
dbSNPrs121908718
ebirs121908718
HLIrs121908718
Exacrs121908718
Varsomers121908718
Maprs121908718
PheGenIrs121908718
hapmaprs121908718
1000 genomesrs121908718
hgdprs121908718
ensemblrs121908718
gopubmedrs121908718
geneviewrs121908718
scholarrs121908718
googlers121908718
pharmgkbrs121908718
gwascentralrs121908718
openSNPrs121908718
23andMers121908718
23andMe allrs121908718
SNP Nexus

SNPshotrs121908718
SNPdbers121908718
MSV3drs121908718
GWAS Ctlgrs121908718
Max Magnitude0
OMIM608958
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908718(A,T;A,T)
Alt rs121908718(A,T;A,T)
Reference rs121908718(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.43249744G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002038.2, RCV000059115.1,


[PMID 2783588OA-icon.png] Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.