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. 2008 Dec 17;18(6):243–250. doi: 10.2188/jea.JE2008022

Table 1. Details of the Loci and haplotypes in the MTHFR gene.

Locus 1 Locus 2 Locus 3 Locus 4
Selected tag SNP C677T A1298C
dbSNP ID rs1801133 rs1801131 rs9651118 rs1476413
Allele C/T A/C T/C G/A
Peptide allele A/V222 E429A intron intron
Positionb (bp) 11,778,965 11,177,742 11,796,480 11,786,566
MAF 0.364 0.178 0.422 0.205

Haplotype Frequency
#1 T A T G 0.39906
#2 C A C G 0.32846
#3 C C T A 0.18728
#4 C A T G 0.05451
#5 T A C G 0.01072
#6 C C T G 0.01006
#7 C A C A 0.00432
#8 C C C A 0.00427
#9 T A C A 0.00133

† MAF : Minor allele frequency from the International HapMap Database