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rs672601318

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs672601318(C;C)
Make rs672601318(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position167518464
GeneCD247
is asnp
is mentioned by
dbSNPrs672601318
ebirs672601318
HLIrs672601318
Exacrs672601318
Varsomers672601318
Maprs672601318
PheGenIrs672601318
hapmaprs672601318
1000 genomesrs672601318
hgdprs672601318
ensemblrs672601318
gopubmedrs672601318
geneviewrs672601318
scholarrs672601318
googlers672601318
pharmgkbrs672601318
gwascentralrs672601318
openSNPrs672601318
23andMers672601318
23andMe allrs672601318
SNP Nexus

SNPshotrs672601318
SNPdbers672601318
MSV3drs672601318
GWAS Ctlgrs672601318
Max Magnitude0
ClinVar
Risk rs672601318(C;C)
Alt rs672601318(C;C)
Reference rs672601318(T;T)
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.167487701A>G
CLNSRC
CLNACC RCV000149426.1,