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rs244076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs244076(A;G)
Make rs244076(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44624274
GeneADA
is asnp
is mentioned by
dbSNPrs244076
dbSNP (classic)rs244076
ClinGenrs244076
ebirs244076
HLIrs244076
Exacrs244076
Gnomadrs244076
Varsomers244076
LitVarrs244076
Maprs244076
PheGenIrs244076
Biobankrs244076
1000 genomesrs244076
hgdprs244076
ensemblrs244076
geneviewrs244076
scholarrs244076
googlers244076
pharmgkbrs244076
gwascentralrs244076
openSNPrs244076
23andMers244076
SNPshotrs244076
SNPdbers244076
MSV3drs244076
GWAS Ctlgrs244076
GMAF0.2213
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 19902562] Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians


ClinVar
Risk rs244076(G;G)
Alt rs244076(G;G)
Reference Rs244076(A;A)
Significance Non-pathogenic
Disease not specified Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN not specified Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43252915T>C
CLNSRC
CLNACC RCV000242567.1, RCV000280771.1,