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rs79281338

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79281338(C;T)
Make rs79281338(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position44622905
GeneADA
is asnp
is mentioned by
dbSNPrs79281338
ebirs79281338
HLIrs79281338
Exacrs79281338
Varsomers79281338
Maprs79281338
PheGenIrs79281338
hapmaprs79281338
1000 genomesrs79281338
hgdprs79281338
ensemblrs79281338
gopubmedrs79281338
geneviewrs79281338
scholarrs79281338
googlers79281338
pharmgkbrs79281338
gwascentralrs79281338
openSNPrs79281338
23andMers79281338
23andMe allrs79281338
SNP Nexus

SNPshotrs79281338
SNPdbers79281338
MSV3drs79281338
GWAS Ctlgrs79281338
Max Magnitude0
ClinVar
Risk rs79281338(T;T)
Alt rs79281338(T;T)
Reference rs79281338(C;C)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency
Reversed 0
HGVS NC_000020.10:g.43251546C>T
CLNSRC
CLNACC RCV000215113.1,