JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Thrombocytosis ×
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: C0836924
Disease:
Thrombocytosis 		0.010 GeneticVariation BEFREE To our knowledge, this is the first case of ET caused by JAK2-T875N mutation with a family history of thrombocytosis and cerebral infarction. 31428969 2019