Variant: rs199840952

present in Gene: ZAP70 present in Chromosome: 2 Position on Chromosome: 97732893 Alleles of this Variant: C/T

rs199840952 in ZAP70 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 26783323 2016 A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.