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rs121908737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908737(A;A)
Make rs121908737(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44625601
GeneADA
is asnp
is mentioned by
dbSNPrs121908737
ebirs121908737
HLIrs121908737
Exacrs121908737
Varsomers121908737
Maprs121908737
PheGenIrs121908737
hapmaprs121908737
1000 genomesrs121908737
hgdprs121908737
ensemblrs121908737
gopubmedrs121908737
geneviewrs121908737
scholarrs121908737
googlers121908737
pharmgkbrs121908737
gwascentralrs121908737
openSNPrs121908737
23andMers121908737
23andMe allrs121908737
SNP Nexus

SNPshotrs121908737
SNPdbers121908737
MSV3drs121908737
GWAS Ctlgrs121908737
Max Magnitude0
OMIM608958
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908737(A;A)
Alt rs121908737(A;A)
Reference rs121908737(G;G)
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.43254242C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002040.2, RCV000059104.1,


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