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rs121908738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908738(C;T)
Make rs121908738(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44622612
GeneADA
is asnp
is mentioned by
dbSNPrs121908738
ebirs121908738
HLIrs121908738
Exacrs121908738
Varsomers121908738
Maprs121908738
PheGenIrs121908738
hapmaprs121908738
1000 genomesrs121908738
hgdprs121908738
ensemblrs121908738
gopubmedrs121908738
geneviewrs121908738
scholarrs121908738
googlers121908738
pharmgkbrs121908738
gwascentralrs121908738
openSNPrs121908738
23andMers121908738
23andMe allrs121908738
SNP Nexus

SNPshotrs121908738
SNPdbers121908738
MSV3drs121908738
GWAS Ctlgrs121908738
GMAF0.0004591
Max Magnitude0
OMIM608958
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908738(T;T)
Alt rs121908738(T;T)
Reference rs121908738(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.43251253G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002041.2, RCV000059114.1,


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