Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF). 26626649

2016

dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE The JAK2 V617F mutation was identified in six of 28 patients (21.4%) with idiopathic PVT or BCS and in eight of 45 patients (17.8%) with PVT or BCS secondary to a known prothrombotic factor, but in only one of 38 patients (2.6%) with PVT and cirrhosis (p=0.049). 25698270

2015

dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE These results suggest that the JAK2-V617F mutation occurs after the onset of monoclonal haematopoiesis; thus the V617F mutation of JAK2 may not be the primary event in the induction of BCS. 19308656

2009

dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases. 18600100

2008

dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 16762626

2006

dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE The purpose of this study was to use JAK2 V617F analysis to re-evaluate the validity of elevated Epo levels as a PV-exclusion criterion in patients with hepatic vein thrombosis [Budd-Chiari syndrome (BCS)]. 16827884

2006

dbSNP: rs77375493
rs77375493
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.070 GeneticVariation BEFREE JAK2 V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS. 17133457

2006