Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.040 GeneticVariation BEFREE To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). 19941738

2009

dbSNP: rs77375493
rs77375493
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.040 GeneticVariation BEFREE The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. 18484677

2008

dbSNP: rs77375493
rs77375493
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.040 GeneticVariation BEFREE In patients with CMD, the multivariate generalized linear regression model showed that the JAK2 (V617F) mutational burden (P = 0.01), serum lactate dehydrogenase level (P = 0.003), and anaemia (P < 0.001) independently correlated with MVD. 18028479

2008

dbSNP: rs77375493
rs77375493
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.040 GeneticVariation BEFREE A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD. 17263783

2007