JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Leukemia, Myelocytic, Acute ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520016
rs1057520016
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE This study provides clues in understanding structural basis of T875N mutation caused JAK2 hyperactivation and its roles in the pathology of AML. 31299252 2019