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. 2017 Apr 20;8(28):45531–45543. doi: 10.18632/oncotarget.17270

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%

a http://www.regulomedb.org/;

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.