Table 1 of Fan, Mol Vis 2008; 14:2484-2491.


Table 1. Characteristics and genotype counts of the 17 SNPs in 5 homocysteine genes.

Gene SNP Chr Position
(bp)
Codon
change
Genotype count (AA/AB/BB)*
PXFS PXFG PXFNG Controls
MTHFR rs1801131 1 11777063 E429A 13/29/37 11/20/26 2/9/11 9/19/22
MTHFR rs1801133 1 11778965 A222V 10/41/33 7/31/23 3/10/10 7/22/21
MTHFR rs17037396 1 11784634 intron 0/15/71 0/13/46 0/2/25 0/17/73
MTR rs12096955 1 235055726 intron 14/40/31 10/28/21 4/12/10 12/39/40
MTR rs2229274 1 235056807 D294N 0/3/80 0/2/59 0/1/21 0/4/53
MTR rs1805087 1 235115123 D919G 6/57/121 6/44/88 0/13/33 6/38/74
MTRR rs326122 5 7929611 intron 2/29/53 1/20/37 1/9/16 5/22/62
MTRR rs1532268 5 7931179 S202L 7/37/37 6/26/26 1/11/11 11/25/18
MTRR rs161870 5 7931192 L206L 17/27/20 11/22/14 6/5/6 10/19/11
MTRR rs162036 5 7938959 R377K 4/20/63 4/13/43 0/7/20 3/20/68
MTHFD1 rs8006686 14 63938424 intron 5/27/55 2/23/35 3/4/20 0/21/70
MTHFD1 rs2236225 14 63978598 R653Q 34/96/51 24/71/42 10/25/9 30/52/35
MTHFD1 rs11627387 14 63993730 intron 7/31/45 4/23/30 3/8/15 8/32/50
CBS rs2124459 21 43348783 intron 16/43/29 9/39/23 7/4/6 14/40/37
CBS rs1801181 21 43353685 A360A 21/75/77 13/60/58 8/15/19 14/43/49
CBS rs5742905 21 43356253 I278T 1/32/151 1/25/112 0/7/39 2/10/96
CBS rs234715 21 43361464 intron 4/29/55 3/25/43 1/4/12 5/30/54