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rs193922741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAG;CAG) 0 common in clinvar
Make rs193922741(CAG;TAT)
Make rs193922741(TAT;TAT)
ReferenceGRCh38 38.1/141
Chromosome1
Position167439353
GeneCD247
is asnp
is mentioned by
dbSNPrs193922741
ebirs193922741
HLIrs193922741
Exacrs193922741
Varsomers193922741
Maprs193922741
PheGenIrs193922741
hapmaprs193922741
1000 genomesrs193922741
hgdprs193922741
ensemblrs193922741
gopubmedrs193922741
geneviewrs193922741
scholarrs193922741
googlers193922741
pharmgkbrs193922741
gwascentralrs193922741
openSNPrs193922741
23andMers193922741
23andMe allrs193922741
SNP Nexus

SNPshotrs193922741
SNPdbers193922741
MSV3drs193922741
GWAS Ctlgrs193922741
Max Magnitude0
ClinVar
Risk rs193922741(TAT;TAT)
Alt rs193922741(TAT;TAT)
Reference rs193922741(CAG;CAG)
Significance Pathogenic
Disease Immunodeficiency due to defect in cd3-zeta
Variation info
Gene CD247
CLNDBN Immunodeficiency due to defect in cd3-zeta
Reversed 1
HGVS NC_000001.10:g.167408590_167408592delCTGinsATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000013589.4,