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. Author manuscript; available in PMC: 2018 Dec 3.
Published in final edited form as: Birth Defects Res. 2018 May 6;110(12):973–981. doi: 10.1002/bdr2.1334

TABLE 1.

Selected variants in folate pathway genes

SNP Location Chromosome Gene Nucleotide change Type/comment pa MAF
rs1801133 11856378 1 MTHFR C→T Exon, nonsynonymous .271 0.418
rs1476413 11852300 1 MTHFR A→G Intron .826 0.147
rs7560488 25568821 2 DNMT3A C→T Validated .890 0.189
rs828903 74209594 2 MTHFD2 A→G Intron .598 0.361
rs7340453 74200888 2 MTHFD2 C→T Intron .987 0.390
rs70991108 80654344 5 DHFR Deletion→insertion Intron .813 0.083

Note. SNP, single nucleotide polymorphisms; MAF, minimum allele frequency; MTHFR, 5,10-methylenetetrahydrofolate reductase; DNMT3A, DNA (cytosine-5)-methyltransferase-3A; MTHFD2, bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial; DHFR, dihydrofolate reductase.

a

p value of Hardy-Weinberg.