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
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
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 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 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
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: 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 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 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 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
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 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: 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: 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
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We found significant association between the rs1801133 (A222V) genotypes and an increased risk of BC development: C/T (odds ratio [OR] = 1.8; 95 % confidence interval [CI] = 1.1-3.2; P = 0.039), T/T (OR = 2.9; 95 % CI = 1.2-7.2; P = 0.025), and C/T + T/T (OR = 1.9; 95 % CI = 1.1-3.3; P = 0.019). 25801246

2015

dbSNP: rs1801133
rs1801133
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964

2015

dbSNP: rs1801133
rs1801133
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We investigated the independent and the combined effects of two commonly occurring polymorphisms, MTHFR 677C>T (rs1801133) and MTHFR 1298A>C (rs1801131), as well as their interaction with the use of hormone replacement therapy (HRT), to determine their potential contribution to breast cancer risk. 21461582

2011

dbSNP: rs1801133
rs1801133
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk for colorectal cancer in 666 patients and 1377 controls from the Czech Republic. 21211571

2011

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