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rs199840952

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199840952(C;T)
Make rs199840952(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position97732893
GeneZAP70
is asnp
is mentioned by
dbSNPrs199840952
ebirs199840952
HLIrs199840952
Exacrs199840952
Varsomers199840952
Maprs199840952
PheGenIrs199840952
hapmaprs199840952
1000 genomesrs199840952
hgdprs199840952
ensemblrs199840952
gopubmedrs199840952
geneviewrs199840952
scholarrs199840952
googlers199840952
pharmgkbrs199840952
gwascentralrs199840952
openSNPrs199840952
23andMers199840952
23andMe allrs199840952
SNP Nexus

SNPshotrs199840952
SNPdbers199840952
MSV3drs199840952
GWAS Ctlgrs199840952
Max Magnitude0
ClinVar
Risk rs199840952(T;T)
Alt rs199840952(T;T)
Reference rs199840952(C;C)
Significance Pathogenic
Disease Combined immunodeficiency Autoimmune disease
Variation info
Gene ZAP70
CLNDBN Combined immunodeficiency Autoimmune disease, multisystem, infantile-onset, 2
Reversed 0
HGVS NC_000002.11:g.98349356C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208562.1, RCV000227350.1,