Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507444
rs397507444
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation BEFREE The C677T and A1298C mutations of 5,10-methylenetetrahydrofolate reductase (MTHFR) have been linked with conditions such as depression, bipolar disorder, and schizophrenia, but there are not clear the relationship between MTHFR polymorphisms and obsessive-compulsive disorder (OCD). 30992611

2020

dbSNP: rs397507444
rs397507444
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation BEFREE The risk observed for A1298C was 2.28 and 2.12 times higher in variants (AC + CC) of both DVT and CAD (OR = 2.28, 95%CI = 1.09-4.75 and OR = 2.12, 95%CI = 1.02-4.40, respectively). 31571711

2020

dbSNP: rs397507444
rs397507444
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: rs397507444
rs397507444
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

dbSNP: rs397507444
rs397507444
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: rs397507444
rs397507444
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE No association between the A1298C polymorphism and the risk to develop breast cancer was determined. 30877449

2019

dbSNP: rs397507444
rs397507444
CUI: C0021364
Disease: Male infertility
Male infertility
0.100 GeneticVariation BEFREE Sensitivity analyses indicated that the final consequences of this meta-analysis were stable, and the publication biases test had not found obvious asymmetry.This meta-analysis indicates that MTHFR C677T, A1298C, and MTRR A66G polymorphisms are the risk factors with susceptibility to male infertility in Asians. 30813130

2019

dbSNP: rs397507444
rs397507444
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.100 GeneticVariation BEFREE The objective of the present study was to evaluate the simultaneous relationship between <i>MTHFR</i> methylation and <i>MTHFR</i> C6TT7 and A1298C polymorphisms with metabolic, inflammatory and oxidative stress parameters related to microvascular complications, diabetic retinopathy (DR) and diabetic nephropathy (DN) in diabetic patients. 30675189

2019

dbSNP: rs397507444
rs397507444
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation BEFREE The A1298C polymorphism contributed to prolong the duration time of schizophrenia. 31302825

2019

dbSNP: rs397507444
rs397507444
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs397507444
rs397507444
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: rs397507444
rs397507444
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs397507444
rs397507444
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The present study focused on understanding the prognostic value of the methylenetetrahydrofolate reductase (MTHFR) single nucleotide polymorphisms rs1801133 (C667T) and rs1801131 (A1298C) in patients with colorectal cancer (CRC). 31330573

2019

dbSNP: rs397507444
rs397507444
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
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: rs397507444
rs397507444
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.100 GeneticVariation BEFREE These findings suggest that the C677T and A1298C polymorphism of MTHFR gene was associated with diabetic nephropathy in a south Indian population. 29227003

2019

dbSNP: rs397507444
rs397507444
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs397507444
rs397507444
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult 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: rs397507444
rs397507444
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE No association between the A1298C polymorphism and the risk to develop breast cancer was determined. 30877449

2019

dbSNP: rs397507444
rs397507444
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314

2019

dbSNP: rs397507444
rs397507444
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE In this meta-analysis, we include 14 studies that focus on MTHFR C677T and A1298C polymorphisms in pediatric patients with malignancy. 28696419

2018

dbSNP: rs397507444
rs397507444
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Relevance of methylenetetrahydrofolate reductase gene variants C677T and A1298C with response to fluoropyrimidine-based chemotherapy in colorectal cancer: a systematic review and meta-analysis. 30131855

2018

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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation BEFREE The study investigated the association between plasma homocysteine, folate and vitamin B12 with 5,10 methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), thymidylate synthase (TYMS 2R → 3R) and methionine synthase (MTR A2756G) polymorphisms and methotrexate (MTX) treatment and toxicity in Tunisian Rheumatoid arthritis (RA) patients. 29796841

2018

dbSNP: rs397507444
rs397507444
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation BEFREE Two genes of the CVD panel demonstrated a strong relationship with RPL, including, MTHFR (C677T homozygosity, A1298C homozygosity, and compound heterozygosity for C677T and A1298C) and Factor II (heterozygosity for G20210A). 29974397

2018

dbSNP: rs397507444
rs397507444
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE However, the mutant C allele of MTHFR A1298C was significantly higher in the cancer group than in the normal group. 29740106

2018