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rs193922740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922740(A;T)
Make rs193922740(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position167439354
GeneCD247
is asnp
is mentioned by
dbSNPrs193922740
ebirs193922740
HLIrs193922740
Exacrs193922740
Varsomers193922740
Maprs193922740
PheGenIrs193922740
hapmaprs193922740
1000 genomesrs193922740
hgdprs193922740
ensemblrs193922740
gopubmedrs193922740
geneviewrs193922740
scholarrs193922740
googlers193922740
pharmgkbrs193922740
gwascentralrs193922740
openSNPrs193922740
23andMers193922740
23andMe allrs193922740
SNP Nexus

SNPshotrs193922740
SNPdbers193922740
MSV3drs193922740
GWAS Ctlgrs193922740
Max Magnitude0
ClinVar
Risk rs193922740(C,T;C,T)
Alt rs193922740(C,T;C,T)
Reference rs193922740(A;A)
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.167408591T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013588.4,