Gene: JAK2 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
0.810 GeneticVariation GWASDB A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384

2009
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
0.810 GeneticVariation GWASCAT A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
T 0.800 GeneticVariation CLINVAR A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
T 0.800 GeneticVariation CLINVAR Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders. 15781101

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
T 0.800 CausalMutation CLINVAR

dbSNP: rs12339666
rs12339666
JAK2 ; INSL6
T 0.700 GeneticVariation GWASCAT Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. 25849990

2015
dbSNP: rs1057519721
rs1057519721
JAK2 ; INSL6
G 0.700 GeneticVariation CLINVAR JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. 20585391

2010
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
A 0.700 GeneticVariation CLINVAR JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. 20585391

2010
dbSNP: rs368927897
rs368927897
JAK2 ; INSL6
T 0.700 GeneticVariation CLINVAR JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906

2007