Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437

2018

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To investigate the distribution of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms, known to be involved in hyperhomocysteinemia-related cardiovascular risk, in elite athletes. 26282718

2016

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE to investigate if NAFLD, in subjects referred for nutritional assessment and counselling, has any difference of prevalence and severity when associated with isolated MTHFR A1298C polymorphism and hyperhomocysteinemia. 24488901

2014

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C). 24923843

2014

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 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: C0598608
Disease: Hyperhomocysteinemia
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

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. 22377704

2012

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients. 16828193

2007

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Finally, we did not find any significant association of combined C677T and A1298C MTHFR polymorphisms with an increased risk for hyperhomocysteinemia in PD patients. 17914182

2007

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE This study confirmed the high prevalence of hyperhomocysteinemia in patients on dialysis, which was diagnosed in 76 patients (85.39%) and high incidence of the C677T and A1298C mutation, 42 (47.19%) and 29 (32.58%) patients, respectively. 17966140

2007

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE APS, revealed by anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate HHcy related to heterozygous C677T and A1298C point mutations of the MTHFR gene were identified as a possible cause of thrombotic disorder responsible for the widespread presence of cutaneous and cerebral lesions. 16595601

2006

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Because they have been described as strong risk factors for idiopathic recurrent pregnancy losses (RPLs), we assessed the association between the methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs) C677T and A1298C and hyperhomocysteinemia in Tunisian women with idiopathic RPL. 16452733

2006

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The objectives of this study were: to determine plasma total homocysteine tHcy levels and the prevalence of hyperhomocysteinemia in children with type 1 diabetes, to determine correlates of plasma tHcy levels with nutritional factor such as serum folic acid and vitamin B12 levels, genetic factors as methylenetetrahydrofolate reductase MTHFR gene polymorphism (C677T and A1298C), to attempt to identify possible dependencies between tHcy and the degree of metabolic control, the duration of the disease and presence of complications, and also to determine the relationship between other coronary risk factors. 16401615

2006

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We investigated whether the MTHFR C677T and A1298C polymorphisms contribute to hyperhomocysteinemia and increase the risk factor for stroke. 16629766

2006

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The aim of this study was the assessment of hyperhomocysteinemia in patients with IBD and its relation among vitamin B12 and folate levels, and methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations. 16262529

2005

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The fact that MTHFR A1298C polymorphism is significantly associated with homocysteine levels, and that the CC genotype is present at a higher frequency in the Indian population, makes it extremely relevant in terms of its potential impact on hyperhomocysteinemia. 16244782

2005

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Our study suggests that both C677T and A1298C MTHFR polymorphisms should be examined when assessing genetic risk factors of hyperhomocysteinemia in epilepsy. 15970629

2004

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR A1298C mutation alone and gender were not associated with either hyperhomocysteinemia or increased CVD risk, but the HD patients with homozygotes 1298CC and wild alleles 677CC (677CC/1298CC) have significant increase of tHcy (37.7 +/- 12) and high prevalence of CVD. 12187094

2002

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE In summary, our study shows that neither MTHFR 677C-->T/1298A-->C genotypes nor hyperhomocysteinemia are independently associated with patient or graft survival following kidney transplantation. 11169021

2001

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Mutation A1298C of methylenetetrahydrofolate reductase: risk for early coronary disease not associated with hyperhomocysteinemia. 11343335

2001

dbSNP: rs397507444
rs397507444
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We also analysed the possible implication of a second new MTHFR polymorphism (1298A-->C) in subjects with mild hyperhomocysteinaemia (4th quartile of homocysteinaemia; tHcy >11.1 micromol/l). 11177206

2000