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rs113994172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994172(A;A)
Make rs113994172(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position97724275
GeneZAP70
is asnp
is mentioned by
dbSNPrs113994172
dbSNP (classic)rs113994172
ClinGenrs113994172
ebirs113994172
HLIrs113994172
Exacrs113994172
Gnomadrs113994172
Varsomers113994172
LitVarrs113994172
Maprs113994172
PheGenIrs113994172
Biobankrs113994172
1000 genomesrs113994172
hgdprs113994172
ensemblrs113994172
geneviewrs113994172
scholarrs113994172
googlers113994172
pharmgkbrs113994172
gwascentralrs113994172
openSNPrs113994172
23andMers113994172
SNPshotrs113994172
SNPdbers113994172
MSV3drs113994172
GWAS Ctlgrs113994172
Max Magnitude0
ClinVar
Risk rs113994172(A;A)
Alt rs113994172(A;A)
Reference Rs113994172(C;C)
Significance Pathogenic
Disease Cd8 deficiency
Variation info
Gene ZAP70
CLNDBN Cd8 deficiency, familial
Reversed 0
HGVS NC_000002.11:g.98340738C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032162.1,