Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation BEFREE There was no difference in the distribution of the <i>MTHFR</i> 677C>T polymorphism between individuals with NW and overweight/obesity; neither when they were divided by overweight vs NW, nor when we contrasted obese vs NW. 31496910

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.100 GeneticVariation BEFREE Elevated Hcy levels in the presence of the T allele in the C677T gene and of the A allele in the A1298C gene are associated with AMI and massive and submassive PE. 29916259

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Furthermore, it has been shown in patients with breast cancer a risk of presenting with an aggressive biophenotype about twice or three times higher in the presence of the C677T and A1298C polymorphisms, respectively. 31523170

2019

dbSNP: rs1217691063
rs1217691063
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.100 GeneticVariation BEFREE Comprehensive analysis of Methylenetetrahydrofolate reductase C677T in younger acute lymphoblastic leukemia patients: A single-center experience. 30545275

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.100 GeneticVariation BEFREE Low folate intake and genetic variants in folate metabolism, such as the methylenetetrahydrofolate reductase (MTHFR) 677 C>T polymorphism, have been suggested to impact brain function and increase the risk for cognitive decline and late-onset Alzheimer's disease. 30288696

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Thrombophilic profile (factor V G1691A (Leiden), factor V H1299R (R2), prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, β-fibrinogen-455 G-A and plasminogen activator inhibitor (PAI)-1 4G/5G) was evaluated using the cardiovascular diseases (CVD) StripAssay based on DNA isolation, PCR and reverse hybridisation. 31300468

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 GeneticVariation BEFREE Via MTHFR C677T polymorphism, the findings in the present study demonstrated that there exists evidence on causal link between Hcy concentration and the risk of hypertension. 31769183

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation BEFREE We discovered the existence of no substantial link between the C677T and A1298C polymorphism and PD risk in any genetic framework comparisons. 31428686

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE The results indicated that, for Latinos, the C677T polymorphism is associated with a significant risk for developing breast cancer, whereas the A1289C polymorphism does not. 30877449

2019

dbSNP: rs1217691063
rs1217691063
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.100 GeneticVariation BEFREE Association of MTHFR 677C>T Polymorphism with Susceptibility to Ovarian and Cervical Cancers: A Systematic Review and Meta-Analysis. 31554347

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.100 GeneticVariation BEFREE Interaction of MTHFR C677T polymorphism with smoking in susceptibility to diabetic nephropathy in Chinese men with type 2 diabetes. 30397262

2019

dbSNP: rs1217691063
rs1217691063
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation BEFREE Our findings suggest that C677T polymorphism of MTHFR seems to be a good marker for MTX-related toxicity in ALL. 30545275

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE He was found as having MTHFR C677T homozygote and plasminogen activator inhibitor-1 4G/5G heterozygote gene mutation with high homocysteine level of 22.90 µmol/L, and he was diagnosed as hyperhomocysteinemia. 31409160

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation BEFREE We observed a significant decrease in risk for the C677T polymorphism (OR range=0.54-0.75, p<0.01) and a significant increase in risk for the A1298C polymorphism (OR range=1.28-2.52, p<0.05) in developing ALL for all genetic models. 31188929

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation BEFREE While C677T is known to play major roles in the risk of adult schizophrenia, our finding for the first time suggests an age-specific association between MTHFR polymorphisms and schizophrenia. 31302825

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate Reductase Gene C677T and A1298C Polymorphic Sequence Variations Influences the Susceptibility to Chronic Myeloid Leukemia in Kashmiri Population. 31396477

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism was not associated with cervical cancer and HPV infection. 31170928

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.100 GeneticVariation BEFREE Expert opinion: Determination of MTHFR C677T polymorphisms as well as measurement of homocysteine concentrations may be useful to migraine patients, particularly those suffering from migraine with aura. 30451038

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.100 GeneticVariation BEFREE Relationship between genetic polymorphism of MTHFR C677T and lower extremities deep venous thrombosis. 30303041

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.100 GeneticVariation BEFREE MTHFR C677T polymorphism was not associated with cervical cancer and HPV infection. 31170928

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 GeneticVariation BEFREE Our objective was to determine the association between the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) and the risk of developing acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and multiple myelomas (MM) in Latinos. 31188929

2019

dbSNP: rs1217691063
rs1217691063
Squamous cell carcinoma of esophagus
0.100 GeneticVariation BEFREE The MTHFR C677T genotype and serum vitamin B<sub>2</sub> or B<sub>12</sub> levels may interact in ways which associated with the EPL and ESCC risks. 31754346

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.100 GeneticVariation BEFREE Here, we first adopted methylenetetrahytrofolate reductase (MTHFR) gene C677T polymorphism as an instrument to infer the possible causal relevance between circulating homocysteine and DKD risk in a Chinese population and next attempted to build a risk prediction model for DKD. 30729677

2019

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The laboratory tests revealed high D-dimers, and positive IgG anti-cardiolipin and anti-beta2 glycoproteins I antibodies, whereas the genetic profile for thrombophilia revealed heterozygote mutation in MTHFR C677T and A1298C genes. 31725629

2019

dbSNP: rs1217691063
rs1217691063
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation BEFREE We observed a significant decrease in risk for the C677T polymorphism (OR range=0.54-0.75, p<0.01) and a significant increase in risk for the A1298C polymorphism (OR range=1.28-2.52, p<0.05) in developing ALL for all genetic models. 31188929

2019