Table 2 Allele frequencies among CYP7B1 SNPs
From: The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population
SNP ID | Chromosome position | Alleles (minor/major) | MAF | O (HET) | E (HET) | p-HWE | HaploReg v4.1 | |
|---|---|---|---|---|---|---|---|---|
Case | Control | |||||||
rs7836768 | chr8: 64,474,910 | G/A | 0.413 | 0.396 | 0.514 | 0.478 | 0.115 | Enhancer histone marks, DNAse, Motifs changed |
rs62519827 | chr8: 64,569,390 | C/T | 0.003 | 0.005 | 0.010 | 0.010 | 1.000 | Siphy cons, Enhancer histone marks, DNAse, Motifs changed |
rs62519841 | chr8: 64,588,948 | A/G | 0.005 | 0.005 | 0.010 | 0.010 | 1.000 | Motifs changed |
rs10808739 | chr8: 64,727,703 | A/G | 0.029 | 0.042 | 0.084 | 0.081 | 1.000 | DNAse, NHGRI/EBI GWAS hits |
rs13276608 | chr8: 64,769,294 | T/C | 0.001 | 0.003 | 0.006 | 0.006 | 1.000 | Motifs changed, Selected eQTL genes |
rs6472155 | chr8: 64,817,650 | G/A | 0.286 | 0.264 | 0.422 | 0.388 | 0.067 | Promoter histone marks, Enhancer histone marks, DNAse, Proteins bound, Motifs changed, NHGRI/EBI GWAS hits, GRASP QTL hits, Selected eQTL genes |
rs2980003 | chr8: 65,087,728 | T/C | 0.357 | 0.346 | 0.452 | 0.452 | 1.000 | DNAse, NHGRI/EBI GWAS hits |