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rs121908736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908736(C;T)
Make rs121908736(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position44626592
GeneADA
is asnp
is mentioned by
dbSNPrs121908736
ebirs121908736
HLIrs121908736
Exacrs121908736
Varsomers121908736
Maprs121908736
PheGenIrs121908736
hapmaprs121908736
1000 genomesrs121908736
hgdprs121908736
ensemblrs121908736
gopubmedrs121908736
geneviewrs121908736
scholarrs121908736
googlers121908736
pharmgkbrs121908736
gwascentralrs121908736
openSNPrs121908736
23andMers121908736
23andMe allrs121908736
SNP Nexus

SNPshotrs121908736
SNPdbers121908736
MSV3drs121908736
GWAS Ctlgrs121908736
GMAF0.002296
Max Magnitude0
OMIM608958
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908736(T;T)
Alt rs121908736(T;T)
Reference rs121908736(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.43255233G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002039.2, RCV000059096.1,


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