Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
0.800 GeneticVariation GWASCAT The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations. 30339177

2018

dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
0.800 GeneticVariation GWASCAT Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. 23696881

2013

dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
A 0.800 GeneticVariation GWASCAT Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729

2013

dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
0.800 GeneticVariation GWASDB Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. 23696881

2013

dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
A 0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729

2013

dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
A 0.800 GeneticVariation GWASDB Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. 20031578

2009

dbSNP: rs1801133
rs1801133
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
A 0.800 GeneticVariation GWASCAT Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. 20031578

2009

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation BEFREE The common mutations found to be associated with schizophrenia and MTHFR are A222V, E429A, and R594Q. 28427558

2017

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation BEFREE The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate reductase (MTHFR-[rs1801133]) polymorphisms' interaction might shed light into the pathogenetic mechanisms of the cognitive dysfunction in schizophrenia. 23353103

2013

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation BEFREE To gain insight into the neural and molecular mechanisms of error processing, we used functional MRI to examine effects of a genetic variant in methylenetetrahydrofolate reductase (MTHFR 677C>T, rs1801133) that increases risk for schizophrenia and that has been specifically associated with increased perseverative errors among patients. 21980405

2011

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. 22037552

2011

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation BEFREE However, since our meta-analysis results demonstrated strong support for association of rs1801133 with schizophrenia, further replication studies based on a gene-wide approach need to be considered. 20692813

2010

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation BEFREE Among the Scandinavian patients the functional MTHFR SNP rs1801133 (C677T) significantly affected age at onset of schizophrenia in a dose-dependent manner (P = 0.0015), with lower age of onset with increasing numbers of the mutant T-allele. 19746410

2010

dbSNP: rs1801133
rs1801133
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.760 GeneticVariation BEFREE A second polymorphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T (rs1801133), has been associated with overall schizophrenia risk and executive function impairment in patients, and may influence dopamine signaling through mechanisms upstream of COMT effects. 18988738

2008

dbSNP: rs1801133
rs1801133
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1801133
rs1801133
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1801133
rs1801133
CUI: C0523631
Disease: Folic acid measurement
Folic acid measurement
0.700 GeneticVariation GWASCAT We validated that rs1801133 in MTHFR was significantly involved in serum folate (P = 4.21 × 10<sup>-19</sup>). 29953918

2018

dbSNP: rs1801133
rs1801133
CUI: C0523631
Disease: Folic acid measurement
Folic acid measurement
0.700 GeneticVariation GWASCAT The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations. 30339177

2018

dbSNP: rs1801133
rs1801133
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT
0.700 GeneticVariation GWASDB Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. 19303062

2009

dbSNP: rs1801133
rs1801133
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463

2020

dbSNP: rs1801133
rs1801133
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE In conclusion, the present meta-analysis indicated that MTRR rs1801394, MTR rs1805087, and MTHFR rs1801133 polymorphisms could be used to identify individuals at high risk of developing BC. 31549463

2020

dbSNP: rs1801133
rs1801133
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE The MTHFR rs1801133 polymorphism was not associated with the prognosis of patients with CRC; however, rs1801131 may be associated with the prognosis of patients with CRC. 31330573

2019

dbSNP: rs1801133
rs1801133
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer. 30362613

2018

dbSNP: rs1801133
rs1801133
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer. 30362613

2018

dbSNP: rs1801133
rs1801133
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE MTHFR rs1801133 T allele serves as a predictive marker for CRC risk and future studies with larger samples and functional evaluation are warranted to validate the current findings. 29599316

2018