Variant Gene Disease 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
0.030 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
0.030 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
0.030 GeneticVariation BEFREE JAK2 V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS. 17133457

2007