Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.070 GeneticVariation BEFREE This study provides evidence that a relevant proportion of cirrhotic patients with PVT harbours a JAK2 V617F mutation. 25115839

2015

dbSNP: rs77375493
rs77375493
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal 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: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.070 GeneticVariation BEFREE The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase 2 (JAK2) V617F mutation, antiphospholipid antibody syndrome (APS), and hyperhomocysteinemia in Brazilian children and adolescents diagnosed with portal vein thrombosis (PVT) without associated hepatic disease. 22684349

2012

dbSNP: rs77375493
rs77375493
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.070 GeneticVariation BEFREE In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without overt MPD. 21893442

2011

dbSNP: rs77375493
rs77375493
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.070 GeneticVariation BEFREE The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs. 18328792

2008

dbSNP: rs77375493
rs77375493
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.070 GeneticVariation BEFREE We recommend testing for JAK2(V617F) in all patients with unexplained HVT or PVT, to identify latent MPDs and prevent potential complications. 19046316

2008

dbSNP: rs77375493
rs77375493
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.070 GeneticVariation BEFREE JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. 17687555

2007

dbSNP: rs899127658
rs899127658
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.040 GeneticVariation BEFREE The FVL G1691A mutation was identified in 1/21 patients (5 %) in the LCi+/PVT+ group, in 5/43 patients (12 %) in the LCi+/PVT- group, and in 2/29 patients (7 %) in the LCi-/PVT+ group. 25115839

2015

dbSNP: rs899127658
rs899127658
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.040 GeneticVariation BEFREE Five of 17 (29%) of cirrhotic patients with PVT but only two of 57 (3.5%) of cirrhotics without PVT, five of 80 (6%) of controls and none of the 19 non-cirrhotic patients with PVT had factor V Leiden G1691A mutation (P<0.05). 15716659

2005

dbSNP: rs899127658
rs899127658
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.040 GeneticVariation BEFREE The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti-thrombin (AT), protein C (PC), protein S (PS) and anti-cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age- and sex-matched healthy controls. 11122096

2000

dbSNP: rs899127658
rs899127658
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.040 GeneticVariation BEFREE In contrast, the frequency of the factor V G1691A mutation was similar in subjects with portal vein thrombosis and in controls but was increased in patients with deep vein thrombosis (P = 0.0001). 9869612

1999

dbSNP: rs1188383936
rs1188383936
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.020 GeneticVariation BEFREE We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT). 15947552

2005

dbSNP: rs1188383936
rs1188383936
F2
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.020 GeneticVariation BEFREE The heterozygous MTHFR C677T mutation was detected in 7 (24%) of 29 patients with BCS and 6 (21%) of 29 patients with PVT. 15198356

2004

dbSNP: rs751377893
rs751377893
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.020 GeneticVariation BEFREE The FVL G1691A mutation was identified in 1/21 patients (5 %) in the LCi+/PVT+ group, in 5/43 patients (12 %) in the LCi+/PVT- group, and in 2/29 patients (7 %) in the LCi-/PVT+ group. 25115839

2015

dbSNP: rs751377893
rs751377893
F5
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.020 GeneticVariation BEFREE Five of 17 (29%) of cirrhotic patients with PVT but only two of 57 (3.5%) of cirrhotics without PVT, five of 80 (6%) of controls and none of the 19 non-cirrhotic patients with PVT had factor V Leiden G1691A mutation (P<0.05). 15716659

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.010 GeneticVariation BEFREE We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT). 15947552

2005

dbSNP: rs368927897
rs368927897
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.010 GeneticVariation BEFREE The FVL G1691A mutation was identified in 1/21 patients (5 %) in the LCi+/PVT+ group, in 5/43 patients (12 %) in the LCi+/PVT- group, and in 2/29 patients (7 %) in the LCi-/PVT+ group. 25115839

2015

dbSNP: rs3743251
rs3743251
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.010 GeneticVariation BEFREE We found A/A genotype at rs3743251 of IGF1R was negatively associated with HBV related HCC [odds ratio (OR) = 0.38, 95% confidence interval (CI) = 0.20-0.72, P = 0.037]; A/G genotype decreased the risk of portal vein thrombosis (OR = 0.38, 95%CI = 0.18-0.82, P = 0.01). 24758241

2014

dbSNP: rs778802559
rs778802559
IK
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.010 GeneticVariation BEFREE We compared frequencies of three common prothrombotic mutations (factor V Leiden, the G20210A mutation of the prothrombin gene, and homozygosity for C677T methylenetetrahydrofolate reductase) in 219 cirrhotic patients, 43 with and 176 without portal vein thrombosis (PVT). 15947552

2005