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Table 1 Fourteen folate-related genes and 118 SNPs

From: 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

Gene Change Chromosome Base Position SNP_ID Type/Comment Percent Genotyped1
BHMT R (A/G) 5 78457715 rs3733890 exon, nonsynonymous R239Q 100
BHMT Y (C/T) 5 78471967 rs1915706 Intergenic/Unknown 96.4
BHMT (G/C) 5 78567093 rs1316753 Tag, BHMT 100
BHMT M (C/A) 5 78465350 rs617219 intergenic 96.4
BHMT M (A/C) 5 78438303 rs645112 Intergenic/Unknown 96.9
BHMT W (A/T) 5 78462964 rs585800 untranslated region 94.2
BHMT S (C/G) 5 78559288 rs3829809 Tag, BHMT 100
BHMT Y (C/T) 5 78452172 rs567754 intron 95.8
BHMT2 M (A/C) 5 78400443 rs642431 intergenic-BHMT2;intron-DMGDH 91.1
BHMT2 R (A/G) 5 78405657 rs626105 intron 96.1
BHMT2 Y (C/T) 5 78409187 rs682985 exon, synonymous 95.5
BHMT2 M (A/C) 5 78387392 rs2253262 exon, synonymous 96.4
BHMT2 K(G/T) 5 78402082 rs670220 Validated 96.7
BHMT2 R (A/G) 5 78404048 rs592052 intron 99.2
BHMT2 R (A/G) 5 78419219 rs597560 intron 98.3
CBS Y (T/C) 21 43360473 rs2851391 intron 92.5
CBS R (A/G) 21 43359173 rs2298759 intron 72.4
CBS Y (T/C) 21 43361102 rs234714 intron 90
CBS S (C/G) 21 43346936 rs1051319 untranslated region 91.9
CBS Y (T/C) 21 43376503 rs234784 Tag, CBS 99.7
CBS N (A/C/G/T) 21 43346760 rs12613 untranslated region 92.5
CBS S (C/G) 21 43377074 rs234785 Tag, CBS 100
CBS R (A/G) 21 43360960 rs234713 intron 91.1
CBS Y (C/T) 21 43376312 rs234783 Tag, CBS 100
DHFR Y(C/T) 5 79986537 rs1650697 Validated nsSNP 92.2
DHFR W(A/T) 5 79957572 rs12109877 Validated 94.2
DHFR Y(C/T) 5 79987790 rs380691 Validated 95.5
DHFR M(A/C) 5 79985331 rs1478834 Validated 96.4
DHFR Y(C/T) 5 79966012 rs1643638 Validated 92.8
DHFR M(A/C) 5 79961366 rs2618372 Validated 96.9
DHFR R (A/G) 5 79980489 rs13161245 Validated 96.1
DHFR Y(C/T) 5 79975899 rs1643650 Validated 94.7
DHFR K(G/T) 5 79981467 rs836821 Validated 97.5
FOLR1 Y (C/T) 11 73373406 rs1540087 untranslated region 95.8
FOLR1 W (T/A) 11 73380857 rs11235462 Tag, FOLR1 100
FOLR1 R (A/G) 11 73372879 rs2071010 untranslated region 91.9
FOLR2 R (A/G) 11 73404256 rs2298444 intron 92.2
FOLR2 R (A/G) 11 73402049 rs514933 intron 100
FOLR2 W (A/T) 11 73401368 rs651646 untranslated region 100
MTHFD1 Y (C/T) 14 63984935 rs2236222 intron 95.5
MTHFD1 Y (C/T) 14 63978904 rs2236224 intron 97.8
MTHFD1 Y (C/T) 14 63952133 rs1950902 exon, nonsynonymous 90.5
MTHFD1 Y (C/T) 14 63978598 rs2236225 exon, nonsynonymous G1958A (R653Q) 100
MTHFD1 (T/A) 14 63999040 hCV11462908 Tag, MTHFD1 100
MTHFD1 R (A/G) 14 63957808 hCV11660794 intron 95.3
MTHFD1 R (A/G) 14 63988165 rs11849530 intron 95.8
MTHFD1 R (A/G) 14 63990418 rs1256146 intron 95
MTHFD1 Y (C/T) 14 63985918 rs10137921 exon, nonsynonymous 96.4
MTHFD1 Y (C/T) 14 63980547 rs1256142 intron 97.8
MTHFD2 Y (T/C) 2 74304595 rs11126426 Intergenic, Tag 100
MTHFD2 (T/A) 2 74280806 rs702465 Intergenic, Tag 96.7
MTHFD2 R (A/G) 2 74313429 rs1667599 Intergenic, Tag 100
MTHFD2 R (A/G) 2 74340847 rs1667627 Validated 96.1
MTHFD2 W (A/T) 2 74333849 rs828858 Intergenic, Tag 100
MTHFD2 (C/G) 2 74281605 rs702466 Intergenic, Tag 99.7
MTHFD2 R (A/G) 2 74372559 rs7571842 Intergenic, Tag 100
MTHFD2 R (A/G) 2 74348376 rs828903 Validated 94.4
MTHFR R (A/G) 1 11801310 rs3737964 Validated 95.8
MTHFR R (A/G) 1 11823734 rs535107 Intergenic, Tag 93.3
MTHFR K(G/T) 1 11798240 rs1931226 Validated 96.9
MTHFR R(A/G) 1 11780518 rs4846048 Validated 89.7
MTHFR Y (C/T) 1 11796598 rs7525338 Validated 97.5
MTHFR R (A/G) 1 11785193 rs2274976 exon, nonsynonymous 93
MTHFR Y (C/T) 1 11792217 rs4846052 intron 96.9
MTHFR Y (C/T) 1 11790644 rs1801133 exon, nonsynonymous C677T 99.4
MTHFR R (A/G) 1 11775209 rs1889292 Intergenic, Tag 100
MTHFR Y (C/T) 1 11797323 rs2066470 exon, synonymous 95.3
MTHFR R (A/G) 1 11788723 rs4846051 exon, synonymous 93
MTHFR R (A/G) 1 11786566 rs1476413 intron 93.9
MTHFR M (A/C) 1 11788742 rs1801131 exon, nonsynonymous A1298C 99.7
MTR M (A/C) 1 233374717 rs2275565 Validated 96.1
MTR Y (C/T) 1 233322616 rs1806505 intron 97.5
MTR K(G/T) 1 233386474 rs3820571 Validated 96.1
MTR Y (C/T) 1 233335898 rs3754255 Validated 94.7
MTR S(C/G) 1 233381346 rs10802569 Validated 96.1
MTR R (A/G) 1 233376992 rs1266164 intron 96.1
MTR R (A/G) 1 233374541 rs1805087 exon, nonsynonymous A2756G 96.4
MTR W(A/T) 1 233385428 rs4659743 Validated 98.3
MTR K(G/T) 1 233390667 rs6676866 Validated 98.3
MTR S(C/G) 1 233315110 rs12060570 Validated 98.6
MTR W(A/T) 1 233306545 rs955516 Validated 99.2
MTR K (G/T) 1 233313831 rs4077829 intron 96.7
MTR R (A/G) 1 233364202 rs1770449 intron 94.4
MTR S (C/G) 1 233353709 rs3768139 intron 95.5
MTR R (A/G) 1 233300165 rs4659724 intron 97.2
MTR Y (C/T) 1 233327367 rs6668344 intron 96.4
MTR R (A/G) 1 233367345 rs7367859 Validated 93.9
MTR K (G/T) 1 233354605 rs3768142 Validated 96.1
MTR Y (C/T) 1 233348403 rs10925252 Validated 96.9
MTR R (A/G) 1 233380610 rs2229276 exon, synonymous 95
MTR R (A/G) 1 233388346 rs1050993 untranslated region 97.2
MTRR R (A/G) 5 7938959 rs162036 Validated nsSNP Lys/Arg 95.5
MTRR S (C/G) 5 7944506 rs16879334 exon, nonsynonymous Pro/Arg 90
MTRR R (G/A) 5 7950319 rs1802059 exon, synonymous 94.7
MTRR R (G/A) 5 7942216 rs2287779 exon, synonymous 97.2
MTRR R (A/G) 5 7927847 rs326120 intron 87.7
MTRR Y (C/T) 5 7950191 rs10380 exon, nonsynonymous, His/Tyr 96.4
MTRR R (A/G) 5 7923973 rs1801394 exon, nonsynonymous 96.7
MTRR Y (C/T) 5 7953712 rs9332 UTR 92.2
MTRR S (C/G) 5 7938907 rs10064631 exon, nonsynonymous 95
MTRR W (A/T) 5 7931424 rs2303080 exon, nonsynonymous 96.1
MTRR R (A/G) 5 7949511 rs3776455 intron 95
MTRR R (A/G) 5 7931179 rs1532268 exon, nonsynonymous 95
MTRR R (A/G) 5 7945310 rs162048 intron 98.6
NOS3 R (A/G) 7 150145737 rs891512 intron 86.6
NOS3 R (A/G) 7 150127591 rs1800779 untranslated region 87.5
NOS3 Y (C/T) 7 150148555 rs3918211 exon, synonymous 96.9
RFC1 K (G/T) 21 45761011 rs3788189 intron 81.1
RFC1 R (A/G) 21 45755537 rs12483377 Tag, RFC 100
RFC1 R (A/G) 21 45756112 rs2236484 Intron, Tag 98.6
RFC1 R (A/G) 21 45761386 rs3788190 Intron, Tag 91.1
RFC1 S (C/G) 21 45750430 rs10483080 intron 99.7
RFC1 Y (C/T) 21 45777720 rs2330183 intron 91.4
TYMS Y (C/T) 18 652215 rs11540152 exon, nonsynonymous 95.8
TYMS Y (C/T) 18 660414 rs2853532 intron 96.4
TYMS R (A/G) 18 656371 rs2847149 intron 97.2
TYMS Y (C/T) 18 652103 rs1001761 intron 98.9
TYMS Y (C/T) 18 649236 rs502396 intron 97.8
  1. 1Percent of 359 controls genotyped for each SNP.
  2. Abbreviations: BHMT = betaine homocysteine methyltransferase; BHMT2 betaine homocysteine methyltransferase-2; CBS = cystathione beta synthase; DHFR = dihydrofolate reductase; FOLR1 folate receptor 1; FOLR2 folate receptor 2; MTHFD1 = methylenetetrahydrofolate dehydrogenase 1; MTHFD2 = methylenetetrahydrofolate dehydrogenase 2; MTHFR = methylenetetrahydrofolate reductase; MTR = methionine synthase; MTRR = methionine synthase reductase; NOS3 = nitric oxide synthase; RFC1 = reduced folate carrier 1; TYMS = thymidylate synthase.