rs1801133, MTHFR

N. diseases: 6
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Homocysteine measurement
CUI: C2242817
Disease: 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
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASDB Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
Homocysteine measurement
CUI: C2242817
Disease: 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
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
0.800 GeneticVariation GWASCAT Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. 23824729 2013
Homocysteine measurement
CUI: C2242817
Disease: 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
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
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
Homocysteine measurement
CUI: C2242817
Disease: Homocysteine measurement
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
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.760 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. 22037552 2011
RDW - Red blood cell distribution width result
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Red cell distribution width determination
CUI: C0427460
Disease: Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Folic acid measurement
CUI: C0523631
Disease: 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
Folic acid measurement
CUI: C0523631
Disease: 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
VITAMIN B12 MEASUREMENT
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
0.700 GeneticVariation GWASDB Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. 19303062 2009