Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.030 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms, which are associated with hyperhomocysteinemia and nitric oxide (NO) deficiency (which is related to atherothrombosis and cerebral ischemia), have not been studied in moyamoya disease. 25098357

2014

dbSNP: rs1217691063
rs1217691063
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.030 GeneticVariation BEFREE Elevation in homocysteine and methylenetetrahydrofolate reductase (MTHFR) gene variants, C677T and A1298C, have been linked with atherothrombosis. 18204887

2009

dbSNP: rs1217691063
rs1217691063
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.030 GeneticVariation BEFREE We report a case of myocardial infarction at a young age in a subject heterozygous for the G20210A prothrombin gene variant and homozygous for the C677T MTHFR polymorphism, who presented a strong family history of atherothrombosis. 17920139

2008

dbSNP: rs397507444
rs397507444
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.020 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms, which are associated with hyperhomocysteinemia and nitric oxide (NO) deficiency (which is related to atherothrombosis and cerebral ischemia), have not been studied in moyamoya disease. 25098357

2014

dbSNP: rs397507444
rs397507444
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.020 GeneticVariation BEFREE Elevation in homocysteine and methylenetetrahydrofolate reductase (MTHFR) gene variants, C677T and A1298C, have been linked with atherothrombosis. 18204887

2009

dbSNP: rs1061170
rs1061170
CFH
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE In contrast to expected results, we found no association of Y402H polymorphism with risk of atherothrombosis (adjusted: myocardial infarction, OR=1.09, 95%CI 0.88-1.36, p=0.43; ischaemic stroke, OR=1.11, 95%CI 0.81-1.54, p=0.52; venous thromboembolism, OR=1.41, 95%CI 0.88-2.24, p=0.15), nor with baseline plasma C-reactive protein levels [median (interquartile range) mg/L: YY, 1.39 (0.70-2.60); YH, 1.10 (0.57-2.16); HH, 1.00 (0.48-1.79); p=0.14]. 16229850

2006

dbSNP: rs1188383936
rs1188383936
F2
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE We report a case of myocardial infarction at a young age in a subject heterozygous for the G20210A prothrombin gene variant and homozygous for the C677T MTHFR polymorphism, who presented a strong family history of atherothrombosis. 17920139

2008

dbSNP: rs1194897557
rs1194897557
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002

dbSNP: rs1805087
rs1805087
MTR
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002

dbSNP: rs2454727
rs2454727
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Coding variants, rs7314976 (p.R311C) and rs2454727 (p.M317I), were genotyped in 2067 participants from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. 28628560

2017

dbSNP: rs4986790
rs4986790
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Toll-like receptor 4 Asp299Gly gene polymorphism and risk of atherothrombosis. 15576653

2005

dbSNP: rs5742905
rs5742905
CBS
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002

dbSNP: rs662
rs662
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis. 23225229

2013

dbSNP: rs7080536
rs7080536
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE In clinical studies, the G534E single nucleotide polymorphism (Marburg I) of FSAP has been linked to late complications of atherothrombosis and is associated with a low proteolytic activity, particularly, towards pro-uPA. 18278176

2008

dbSNP: rs7314976
rs7314976
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Coding variants, rs7314976 (p.R311C) and rs2454727 (p.M317I), were genotyped in 2067 participants from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. 28628560

2017

dbSNP: rs7493
rs7493
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis. 23225229

2013

dbSNP: rs769737896
rs769737896
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002

dbSNP: rs773371778
rs773371778
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002