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rs113994173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994173(A;A)
Make rs113994173(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position97733464
GeneZAP70
is asnp
is mentioned by
dbSNPrs113994173
dbSNP (classic)rs113994173
ClinGenrs113994173
ebirs113994173
HLIrs113994173
Exacrs113994173
Gnomadrs113994173
Varsomers113994173
LitVarrs113994173
Maprs113994173
PheGenIrs113994173
Biobankrs113994173
1000 genomesrs113994173
hgdprs113994173
ensemblrs113994173
geneviewrs113994173
scholarrs113994173
googlers113994173
pharmgkbrs113994173
gwascentralrs113994173
openSNPrs113994173
23andMers113994173
SNPshotrs113994173
SNPdbers113994173
MSV3drs113994173
GWAS Ctlgrs113994173
Max Magnitude0
ClinVar
Risk rs113994173(A;A)
Alt rs113994173(A;A)
Reference Rs113994173(G;G)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98349927G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033937.2,