JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: THROMBOCYTHEMIA 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C3281125
Disease:
THROMBOCYTHEMIA 3 		0.800 GeneticVariation UNIPROT Germline JAK2 mutation in a family with hereditary thrombocytosis. 22397670 2012
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C3281125
Disease:
THROMBOCYTHEMIA 3 		0.800 GeneticVariation UNIPROT Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 16325696 2005
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C3281125
Disease:
THROMBOCYTHEMIA 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C3281125
Disease:
THROMBOCYTHEMIA 3 		A 0.800 CausalMutation CLINVAR