Variant: rs1801133 

    present in Gene: MTHFR
    present in Chromosome: 1
    Position on Chromosome: 11796321
    Alleles of this Variant: G/A

rs1801133 in MTHFR gene and Folic acid measurement PMID 30339177 2018 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.

PMID 29953918 2018 We validated that rs1801133 in MTHFR was significantly involved in serum folate (P = 4.21 × 10<sup>-19</sup>).

rs1801133 in MTHFR gene and Homocysteine measurement PMID 20031578 2009 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.

PMID 23696881 2013 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.

PMID 30339177 2018 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.

PMID 23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

rs1801133 in MTHFR gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1801133 in MTHFR gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1801133 in MTHFR gene and Schizophrenia PMID 22037552 2011 Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.

rs1801133 in MTHFR gene and VITAMIN B12 MEASUREMENT PMID 19303062 2009 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.