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rs199422327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422327(G;G)
Make rs199422327(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44621082
GeneADA
is asnp
is mentioned by
dbSNPrs199422327
ebirs199422327
HLIrs199422327
Exacrs199422327
Varsomers199422327
Maprs199422327
PheGenIrs199422327
hapmaprs199422327
1000 genomesrs199422327
hgdprs199422327
ensemblrs199422327
gopubmedrs199422327
geneviewrs199422327
scholarrs199422327
googlers199422327
pharmgkbrs199422327
gwascentralrs199422327
openSNPrs199422327
23andMers199422327
23andMe allrs199422327
SNP Nexus

SNPshotrs199422327
SNPdbers199422327
MSV3drs199422327
GWAS Ctlgrs199422327
Max Magnitude0
ClinVar
Risk rs199422327(G;G)
Alt rs199422327(G;G)
Reference rs199422327(T;T)
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.43249723A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002035.2,