rs1188383936, F2

N. diseases: 102
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE From 2008 to 2017, all 26 consecutive newborn infants ≥35 weeks of gestation diagnosed with neonatal CSVT, and their mothers, were tested for factor V Leiden (FV) G1691A, FII G20210A, and methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations. 31025572 2019
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.100 GeneticVariation BEFREE Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation). 29299826 2018
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Risk factors reviewed include myeloproliferative neoplasms (MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria (PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation, factor V Leiden (FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. 27734511 2016
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE IVF outcomes are not associated with FVL, PGM, MTHFR (C677T), MTHFR (A1298C), and APCR mutation in inherited thrombophilias. 27216921 2016
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.100 GeneticVariation BEFREE The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C. 26135458 2016
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.100 GeneticVariation BEFREE IVF outcomes are not associated with FVL, PGM, MTHFR (C677T), MTHFR (A1298C), and APCR mutation in inherited thrombophilias. 27216921 2016
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %). 26891731 2016
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788). 25699610 2015
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We aimed to determine the prevalence of factor V Leiden (FVL), prothrombin (PTH) G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T gene polymorphisms in Egyptian nonmetastatic cancer patients and their influence on thrombosis risk in those patients. 25565385 2015
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Factor V Leiden, PTH G20210A and MTHFR C677T polymorphisms were detected in 40 cancer patients with VTE (group 1) and 40 cancer patients with no evidence of VTE (group 2) by PCR-based DNA analysis. 25565385 2015
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE MTHFR C677T had no association with VTE risk in pregnancy (ORG 1.24; 95% CI 0.88-1.73). 26115054 2015
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Three common polymorphic variants, namely Factor V Leiden (FVL), Prothrombin G20210A (PT G20210A) and Methylenetetrahydrofolate Reductase (MTHFR) C677T are candidate genes for venous thromboembolism (VTE) in pregnancy. 26115054 2015
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate-severe hemophilia A (n = 51) and controls (n = 25). 22411997 2014
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE No significant association with VTE was found for homozygous C677T MTHFR (OR: 1.38; 95 % confidence intervals [CI]: 0.98-1.93), whereas the risk was increased in carriers of either heterozygous FVL or PT20210 (OR = 4.22; 95 % CI: 3.35-5.32; and OR = 2.79;95 % CI: 2.25-3.46, respectively), in double heterozygotes (OR = 3.42; 95 %CI 1.64-7.13), and in homozygous FVL or PT20210A (OR = 11.45; 95 %CI: 6.79-19.29; and OR: 6.74 (CI 95 % 2.19-20.72), respectively). 23900608 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711 2013
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We analysed the prevalence of the most common hereditary thrombophilia (hTP) - factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) - and the 677 C>T replacement in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth. 23795816 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Out of three homozygous cases for C677T MTHFR polymorphism, two of these patients had hy</span>perhomocysteinemia. 23337710 2013
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE We determined whether the presence of the factor prothrombin gene G20210A variant, factor V gene G1691A mutation (factor V Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms may be risk factors for vascular complications in individuals with SCD. 23992124 2013
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The three genes were involved in thrombophilia: factor V Leiden (G1691A), prothrombin (G20210A), Methylenetetrahydrofolate Reductase (MTHFR C677T) and one in hypofibrinolysis: Tissue Plasminogen Activator (PLAT TPA25 I/D). 24025446 2013
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase (MTHFR), a clotting Factor V Leiden mutation (1691G→A substitution of Factor V Leiden), and the mutant prothrombin 20210A allele were analyzed in this study. 22924497 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE In infants with atypical PVHI mutation analysis of the factor V Leiden (G1691A), prothrombin (G20210A) gene, and C677T and A1298C polymorphisms in the MTHFR gene was performed, and plasma lipoprotein(a) and homocysteine levels were measured. 22098125 2012
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Factor V leiden G1691A/R506Q (FVL), prothrombin G20210A (FII) and methylenetetrahydrofolate reductase (MTHFR) C677T are related genetic risk factors for venous thromboembolism. 22528331 2012
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.100 GeneticVariation BEFREE Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. 21078611 2012
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.100 GeneticVariation BEFREE Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia. 22521752 2012
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.100 GeneticVariation BEFREE The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. 22047507 2012