JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Myeloproliferative disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1319313254
rs1319313254
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.010 GeneticVariation BEFREE The CAT-262 C>T and GPX1 Pro198Leu polymorphisms were seen significantly less frequently, while the GSTP1 IleVal105 polymorphism was seen significantly more frequently in patients with BCR-ABL negative myeloproliferative neoplasms, regardless of the molecular sub-type (e.g.JAK2 V617F or CALR mutated). 27077777 2016