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rs199422328

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422328(G;T)
Make rs199422328(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626597
GeneADA
is asnp
is mentioned by
dbSNPrs199422328
ebirs199422328
HLIrs199422328
Exacrs199422328
Varsomers199422328
Maprs199422328
PheGenIrs199422328
hapmaprs199422328
1000 genomesrs199422328
hgdprs199422328
ensemblrs199422328
gopubmedrs199422328
geneviewrs199422328
scholarrs199422328
googlers199422328
pharmgkbrs199422328
gwascentralrs199422328
openSNPrs199422328
23andMers199422328
23andMe allrs199422328
SNP Nexus

SNPshotrs199422328
SNPdbers199422328
MSV3drs199422328
GWAS Ctlgrs199422328
Max Magnitude0
ClinVar
Risk rs199422328(T;T)
Alt rs199422328(T;T)
Reference rs199422328(G;G)
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.43255238C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002054.2,