Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI 16.8-46.1) with splanchnic venous thrombosis and 42.8% (95% CI 24.4-63.4) with PVT had the JAK2 V617F mutation. 17263783

2007

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE Nonetheless, we found a hypercoagulable state in Ph-CMPD with V617F by employing whole blood thromboelastography. 18612778

2008

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F) mutational status in essential thrombocythemia (ET) and polycythemia vera (PV) patients. 18768782

2008

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. 18796251

2008

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE In conclusion, in the younger patients with ET the thrombotic risk is higher in the JAK2 V617F-mutated and is further increased by the presence of inherited thrombophilia. 19336736

2009

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women. 21232003

2011

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE A work-up for JAK2 V617F mutation and thrombophilia was done. 23941968

2013

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.080 GeneticVariation BEFREE Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). 25042466

2014