JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Disease: Severe Combined Immunodeficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520020
rs1057520020
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C0085110
Disease:
Severe Combined Immunodeficiency 		T 0.700 GeneticVariation CLINVAR Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. 18559588 2008