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rs113994174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994174(C;T)
Make rs113994174(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position97737576
GeneZAP70
is asnp
is mentioned by
dbSNPrs113994174
ebirs113994174
HLIrs113994174
Exacrs113994174
Varsomers113994174
Maprs113994174
PheGenIrs113994174
hapmaprs113994174
1000 genomesrs113994174
hgdprs113994174
ensemblrs113994174
gopubmedrs113994174
geneviewrs113994174
scholarrs113994174
googlers113994174
pharmgkbrs113994174
gwascentralrs113994174
openSNPrs113994174
23andMers113994174
23andMe allrs113994174
SNP Nexus

SNPshotrs113994174
SNPdbers113994174
MSV3drs113994174
GWAS Ctlgrs113994174
Max Magnitude0
ClinVar
Risk rs113994174(T;T)
Alt rs113994174(T;T)
Reference rs113994174(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98354039C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032160.1,