Table 1.
Polymorphism characteristics
| Gene | dbSNP rs no. | Location | Nucleotide substitution | MAF | P value for HWE |
|---|---|---|---|---|---|
| ESR1 | (TA)n | Promoter | (TA)n | 0.50a | 0.76 |
| 6q25.1 | rs2077647 | Exon 1 (Ser10Ser) | T/C | 0.45 | 0.10 |
| rs2234693 | Intron 1 | T/C | 0.45 | 0.70 | |
| rs9340799 | Intron 1 | A/G | 0.36 | 0.83 | |
| rs1801132 | Exon 4 (Pro325Pro) | C/G | 0.23 | 0.08 | |
| (CA)n | Intron 5 | (CA)n | 0.36a | 0.48 | |
| ESR2 | rs1256059 | Intron 2 | C/T | 0.44 | 0.77 |
| 14q23.2 | (CA)n | Intron 5 | (CA)n | 0.21a | 0.67 |
| rs1256031 | Intron 7 | T/C | 0.48 | 0.58 | |
| CYP19A1 | rs700518b | Exon 3 (Val80Val) | A/G | 0.47 | 0.01 |
| 15q21.1 | (TTTA)n | Intron 4 | (TTTA)n | 0.48a | 0.99 |
| rs726547 | Intron 4 | C/T | 0.05 | 0.78 |
dBSNP, The Single Nucleotide Polymorphism database (http://www.ncbi.nlm.nih.gov/(SNP/); MAF, minor allele frequency.
a
Calculated using median number of repeats.
b
In HWE in postmenopausal women.