Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 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

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 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
0.050 GeneticVariation BEFREE Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. 19336736

2009

dbSNP: rs77375493
rs77375493
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 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
0.050 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