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rs121908740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908740(C;T)
Make rs121908740(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44623054
GeneADA
is asnp
is mentioned by
dbSNPrs121908740
ebirs121908740
HLIrs121908740
Exacrs121908740
Varsomers121908740
Maprs121908740
PheGenIrs121908740
hapmaprs121908740
1000 genomesrs121908740
hgdprs121908740
ensemblrs121908740
gopubmedrs121908740
geneviewrs121908740
scholarrs121908740
googlers121908740
pharmgkbrs121908740
gwascentralrs121908740
openSNPrs121908740
23andMers121908740
23andMe allrs121908740
SNP Nexus

SNPshotrs121908740
SNPdbers121908740
MSV3drs121908740
GWAS Ctlgrs121908740
Max Magnitude0
OMIM608958
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908740(T;T)
Alt rs121908740(T;T)
Reference rs121908740(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.43251695G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002043.2, RCV000059111.1,


[PMID 2166947OA-icon.png] Hot spot mutations in adenosine deaminase deficiency.