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 |