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. 2019 Nov 12;39(11):BSR20192517. doi: 10.1042/BSR20192517

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%
1

MAF, minor allele frequency.

2

HWE.