JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Thrombocythemia, Essential ×
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: C0040028
Disease:
Thrombocythemia, Essential 		0.010 GeneticVariation BEFREE Essential thrombocytosis attributed to JAK2-T875N germline mutation. 31428969 2019