Table 2.

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

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

Global allele frequencies were derived from dbSNP147. p values were derived from chi-squared analysis with one degree of freedom

p values of significance (< 0.05) are in italics

MAF minor allele frequency, NS not significant, NA data not available

*The minor allele frequency was calculated from the mean MAF in EXAc (0.452) and Clinvar (0.47)