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rs104893674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893674(A;A)
Make rs104893674(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position97737828
GeneZAP70
is asnp
is mentioned by
dbSNPrs104893674
dbSNP (classic)rs104893674
ClinGenrs104893674
ebirs104893674
HLIrs104893674
Exacrs104893674
Gnomadrs104893674
Varsomers104893674
LitVarrs104893674
Maprs104893674
PheGenIrs104893674
Biobankrs104893674
1000 genomesrs104893674
hgdprs104893674
ensemblrs104893674
geneviewrs104893674
scholarrs104893674
googlers104893674
pharmgkbrs104893674
gwascentralrs104893674
openSNPrs104893674
23andMers104893674
SNPshotrs104893674
SNPdbers104893674
MSV3drs104893674
GWAS Ctlgrs104893674
Max Magnitude0
OMIM176947
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893674(A;A)
Alt rs104893674(A;A)
Reference Rs104893674(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98354291C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033208.27,