Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042579
rs1042579
0.010 GeneticVariation BEFREE The <i>TM</i> C1418T (rs1042579) polymorphism is associated with a high risk of cardiac-cerebral vascular diseases. 30008974

2018

dbSNP: rs1061170
rs1061170
CFH
0.010 GeneticVariation BEFREE We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequently developed arterial or venous thrombotic event (incident myocardial infarction (MI), ischaemic stroke, or venous thromboembolism) and amongst 685 age- and smoking-matched Caucasian individuals who remained free of reported vascular disease during follow-up (controls) within the Physicians' Health Study cohort. 16229850

2006

dbSNP: rs1122608
rs1122608
0.010 GeneticVariation BEFREE Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. 24251769

2014

dbSNP: rs112735431
rs112735431
0.020 GeneticVariation BEFREE Accumulating studies have reported that there is an association between the Ring finger protein 213 (RNF213) p.R4810K (rs112735431, c.14576G>A) single nucleotide polymorphism and the predisposition of moyamoya disease (MMD), intracranial major artery stenosis/occlusion (ICASO), quasi-moyamoya disease (quasi-MMD), and other vascular diseases. 29752070

2018

dbSNP: rs112735431
rs112735431
0.020 GeneticVariation BEFREE We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. 31818681

2020

dbSNP: rs11591147
rs11591147
0.020 GeneticVariation BEFREE In this population 3.5% were carriers of the T allele at R46L, and these subjects had significantly (p<0.001) lower levels of LDL C (mean, -10%), no difference in LDL C lowering response to pravastatin, and a non-significant 19% unadjusted and 9% adjusted decreased risk of vascular disease at baseline, with no on trial effect. 18262190

2008

dbSNP: rs11591147
rs11591147
0.020 GeneticVariation BEFREE R46L polymorphism in the PCSK9 gene: Relationship to lipid levels, subclinical vascular disease, and erectile dysfunction. 29773421

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We found raised median tHcy levels in all patient groups vs. controls (p < 0.05), with odds ratios (95% CI) for vascular disease among patients with HHcy (defined as > 15 micromol/l) of 3.9 (0.6 - 14.3), 4.8 (1.2 - 18.8) and 15.8 (2.8 - 87.3) respectively. tHcy levels were a function of MTHFR C677T genotype, and all patients with tHcy levels > 30 micromol/l had the MTHFR C677T homozygous substitution. 14698652

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Further studies are needed to establish whether the C677T and the A1298C mutations have an impact on vascular disease in the Ashkenazi Jewish population. 10494095

1999

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The prevalences of the C677T and A1298C genotypes did not differ significantly in 772 individuals with documented coronary artery disease (CAD), 137 individuals with deep-vein thrombosis (DVT), and 329 individuals without documented vascular disease. 11274015

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE However, it is still controversial a direct association between C677T homozygosity and the occurrence of vascular disease is still controversial. 10477457

1999

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common mutation in methylenetetrahydrofolate reductase (MTHFR), 677C-->T, is associated with reduced enzyme activity, a thermolabile enzyme and mild hyperhomocysteinemia, a risk factor for vascular disease. 11395038

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE To investigate the influence of MTHFR polymorphism on vascular disease risks in young Japanese females, we determined dietary intakes, serum folate and tHcy, and examined the influence of MTHFR 677C>T polymorphism in healthy junior and high school students (n=192, 12-18y). 22507617

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been speculated to be and extensively investigated as a risk factor for various vascular diseases, including intracerebral hemorrhage (ICH). 26757363

2016

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The total homocysteine (tHcy) plasma level, which is partly determined by the MTHFR 677C-->T genotype, may be associated with vascular disease. 11169021

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene, one of the key enzymes catalyzing remethylation of homocysteine, may play a role in the development of not only vascular disease but also diabetic microangiopathies. 15126006

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The C677T variant in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with increased levels of circulating homocysteine and is a mild risk factor for vascular disease. 15053827

2004

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE In the present study, the determinants of fasting plasma homocysteine in diabetic subjects were examined; whether plasma homocysteine and vascular disease are related and the influence of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene on serum and erythrocyte folate, plasma homocysteine and vascular disease. 12049616

2002

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The thrombotic risk factors decreased levels of activated protein C resistance ratios and protein C, elevated homocysteine and the MTHFR 677 C-->T mutation are likely risk factors for placental vasculopathy. 10847236

2000

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR 677C/T polymorphism is associated with the risk of vascular diseases due to hyperhomocysteinemia. 19646848

2009

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The variant methylenetetrahydrofolate reductase (MTHFR) C677T is associated with elevated homocysteine levels, cardiovascular disease and stroke, which supports a causal relationship between hyperhomocysteinemia and vascular disease. 23285280

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Blood samples from 70 patients with vascular disease and 70 healthy controls were analyzed for plasma homocysteine levels (chemiluminescent immunoassay) and for the presence of MTHFR C677T (polymerase chain reaction analysis). 22375042

2012

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Lower levels of dietary folate intake and the C677T mutation in MTHFR are important causes of mild hyperhomocysteinemia and may therefore contribute to vascular disease in the community. 10318658

1999

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme activity and were associated with the susceptibility to different disorders, including vascular disease, neural tube defects and lymphoid malignancies. 15921520

2005

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Homozygosity for the thermolabile variant of 5,10-methylene tetrahydrofolate reductase (C677T) has been suggested to be positively associated with the risk of vascular disease and neural tube defects. 17010581

2007