Skip to main content

Table 2 Table showing one carbon pathway enzyme allele frequencies in 55 BWS and 100 control specimens and their significance values

From: Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Gene SNV BWS MAF 110 alleles Local control MAF 200 alleles p value BWS versus local controls Global control MAF
MTHFR Rs1801133: C>T 0.391 0.260 0.0167 0.24
Rs1801131: A>C 0.309 0.400 0.0516 0.2494
Rs2274976: G>A 0.045 0.060 0.6606 0.075
MTRR Rs1801394: A>G 0.560 0.490 0.214 0.46*
Rs2287780: C>T 0.0833 0.035 0.068 0.076
Rs10380: C>T 0.1204 0.090 0.397 0.174
MAT1A Rs114494303: G>A 0.01 0.00 NS 0.0002
Rs72558181: G>A 0.01 0.00 NS 0.000009
Rs112848063: A>G 0.00 0.00 NS NA
Rs116659053: G>A 0.00 0.00 NS 0.0002
MTR Rs1805087: A>G 0.2091 0.220 0.981 0.218
CBS Rs17849313: G>C 0.000 0.00 NS NA
Rs117687681: C>T 0.010 0.00 NS NA
Rs11700812: G>A/C 0.000 0.00 NS NA
  1. Global allele frequencies were derived from dbSNP147. p values were derived from chi-squared analysis with one degree of freedom
  2. p values of significance (< 0.05) are in italics
  3. MAF minor allele frequency, NS not significant, NA data not available
  4. *The minor allele frequency was calculated from the mean MAF in EXAc (0.452) and Clinvar (0.47)