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rs193922739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs193922739(CA;TG)
Make rs193922739(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome1
Position167439354
GeneCD247
is asnp
is mentioned by
dbSNPrs193922739
ebirs193922739
HLIrs193922739
Exacrs193922739
Varsomers193922739
Maprs193922739
PheGenIrs193922739
hapmaprs193922739
1000 genomesrs193922739
hgdprs193922739
ensemblrs193922739
gopubmedrs193922739
geneviewrs193922739
scholarrs193922739
googlers193922739
pharmgkbrs193922739
gwascentralrs193922739
openSNPrs193922739
23andMers193922739
23andMe allrs193922739
SNP Nexus

SNPshotrs193922739
SNPdbers193922739
MSV3drs193922739
GWAS Ctlgrs193922739
Max Magnitude0
ClinVar
Risk rs193922739(TG;TG)
Alt rs193922739(TG;TG)
Reference rs193922739(CA;CA)
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.167408591_167408592delTGinsCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000013587.4,