Table 2. Primary information for VDR rs2107301 T>C, rs2228570 C>T, rs1989969 C>T and rs11568820 G>A polymorphisms.
Genotyped SNPs | VDR rs2107301 T>C | VDR rs2228570 C>T | VDR rs1989969 C>T | VDR rs11568820 G>A |
---|---|---|---|---|
Chromosome | 12 | 12 | 12 | 12 |
Gene (ID) | VDR (7421) | VDR (7421) | VDR (7421) | VDR (7421) |
Function | Intron region | Missense | Intron region | Intergene region |
Chr Pos (Genome Build 36.3) | 46541837 | 46559162 | 46564277 | 46588812 |
Regulome DB Scorea | 5 | 5 | No data | No data |
TFBSb | — | — | — | Y |
Splicing (ESE or ESS) | — | Y | — | — |
nsSNP | — | Y | — | — |
MAFc for Chinese in database | 0.291 | 0.482 | 0.330 | 0.453 |
MAF in our controls (n = 608) | 0.297 | 0.456 | 0.323 | 0.433 |
p value for HWEd test in our controls | 0.690 | 0.347 | 0.718 | 0.574 |
Genotyping methode | LDR | LDR | LDR | LDR |
% Genotyping value | 95.52% | 95.52% | 98.19% | 98.08% |
b TFBS: Transcription Factor Binding Site (http://snpinfo.niehs.nih.gov/snpinfo/snpfunc.htm);
c MAF: minor allele frequency;
d HWE: Hardy–Weinberg equilibrium;
e LDR: ligation detection reaction.