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rs121908735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908735(C;T)
Make rs121908735(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44625581
GeneADA
is asnp
is mentioned by
dbSNPrs121908735
ebirs121908735
HLIrs121908735
Exacrs121908735
Varsomers121908735
Maprs121908735
PheGenIrs121908735
hapmaprs121908735
1000 genomesrs121908735
hgdprs121908735
ensemblrs121908735
gopubmedrs121908735
geneviewrs121908735
scholarrs121908735
googlers121908735
pharmgkbrs121908735
gwascentralrs121908735
openSNPrs121908735
23andMers121908735
23andMe allrs121908735
SNP Nexus

SNPshotrs121908735
SNPdbers121908735
MSV3drs121908735
GWAS Ctlgrs121908735
Merged fromRs28930971
Max Magnitude0
OMIM608958
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908735(T;T)
Alt rs121908735(T;T)
Reference rs121908735(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43254222G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002047.3,


[PMID 1284479] Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.