JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519753
rs1057519753
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C3501854
Disease:
Leukemia, Acute, X-Linked
A 0.700 GeneticVariation CLINVAR Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102 2009