Table 2. Primary information for MTHFR polymorphisms.
Genotyped SNPs | rs3753584 T>C | rs4846048 A>G | rs4845882 G>A | rs1801133 G>A | rs9651118 T>C |
---|---|---|---|---|---|
Chromosome | 1 | 1 | 1 | 1 | 1 |
Location (NCBI Build 37) | 11864586 | 11846252 | 11843167 | 11856378 | 11862214 |
Function | NearGene-5 | Intron | Intron | Missense | Intron |
Regulome DB scores (http://www.regulomedb.org/) | 4 | 3a | 1f | 4 | 5 |
Transcription factor binding site (http://snpinfo.niehs.nih.gov/snpinfo/snpfunc.htm) | Y | - | - | - | Y |
MiRNA (miRanda) | - | Y | - | - | - |
MAF1 for Chinese in database | 0.093 | 0.105 | 0.198 | 0.439 | 0.382 |
MAF in our controls (n=923) | 0.111 | 0.095 | 0.216 | 0.354 | 0.378 |
P-value for HWE2 test in our controls | 0.814 | 0.029 | 0.437 | 0.074 | 0.021 |
Genotyping method | SNPscan | SNPscan | SNPscan | SNPscan | SNPscan |
% Genotyping value | 99.27% | 99.27% | 99.27% | 99.27% | 99.27% |
MAF, minor allele frequency.
HWE.