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rs74315290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315290(C;T)
Make rs74315290(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position167439355
GeneCD247
is asnp
is mentioned by
dbSNPrs74315290
ebirs74315290
HLIrs74315290
Exacrs74315290
Varsomers74315290
Maprs74315290
PheGenIrs74315290
hapmaprs74315290
1000 genomesrs74315290
hgdprs74315290
ensemblrs74315290
gopubmedrs74315290
geneviewrs74315290
scholarrs74315290
googlers74315290
pharmgkbrs74315290
gwascentralrs74315290
openSNPrs74315290
23andMers74315290
23andMe allrs74315290
SNP Nexus

SNPshotrs74315290
SNPdbers74315290
MSV3drs74315290
GWAS Ctlgrs74315290
Max Magnitude0
OMIM186780
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315290(T;T)
Alt rs74315290(T;T)
Reference rs74315290(C;C)
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.167408592G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013586.22,