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. Author manuscript; available in PMC: 2013 Feb 1.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2012 Jan 12;94(2):84–90. doi: 10.1002/bdra.22884

Table 1.

SNPs with rare alleles in the MTHFR gene of MM subjects categorized by ethnicity

SNP A1/A2 significance Caucasian (A1/A2) Mexican (A1/A2)

MM controls MM controls
rs3834043 G/- Intron 1 94/4 No data 94/0 120/0 c
rs45594036 G/T Intron 1 91/5 114/6 d 92/2 114/6 c
rs13306561 T/C Intron 1 89/7a 82/24 92/2 109/7
rs2066470 C/T Pro39Pro 94/4 104/12 93/1 109/5
rs2066466 G/A Thr139Thr 98/0 No data 92/2 119/1 c
rs1801133 C/T Ala222Val 58/40a 91/29 43/51 69/47
rs2066462 C/T Ser352Ser 94/4a 100/14 93/1 113/7 c
rs1994798 T/C Intron 7 61/37 55/49 74/20 95/25 c
rs12121543 G/T Intron 7 73/21 87/33 89/5b 96/20
rs1801131 A/C Glu429Ala 68/26 77/43 87/7b 92/24
rs4846051 T/C Phe435Phe 92/2 120/0 92/2 113/3
rs17375901 G/A Intron 9 93/5 113/7 94/0 118/2 c
rs1476413 G/A Intron 9 77/21 84/36 89/5b 94/22
rs55686944 G/A Intron 11 90/8 111/9 d 88/4 No data
rs3818762 C/G Intron 11 78/20 80/36 89/5 113/7 c
rs45622739 G/A Intron 11 98/0 No data 93/1 120/0 c
rs2274976 G/A Arg594Gln 98/0a 113/7 93/1 111/5
rs35737219 C/T Thr653Met 96/2 No data 92/2 120/0 c

Notes: A1/A2 represents alleles 1 and 2 of the SNPs. SNPs and allele counts with significant difference compared to reference population are bolded.

a

p<0.05 comparing Caucasian MM subject to dbSNP Caucasian control allele frequencies.

b

p <0.05 comparing Mexican American MM subject to Mexican American control allele frequencies.

Controls = reference population from dbSNP or other sources include

c

control population data from Martin et al. 2006, and

d

control population data from the 1000 Genome Project.