Table 2.
Data for the SNP positions under study
| SNP | Gene | GRCh38 | Allele variants | MAF | Role | Gene consequence | Assay ID |
|---|---|---|---|---|---|---|---|
| rs1152578 | ESR2 | chr14:64230319 | T/C | T 0.424 | Not reported | Intron variant | C___1436977_10 |
| rs1256065 | ESR2 | chr14:64232214 | G/T | G 0.431 | Associated with bone mineral density [18] | Intron variant | C___1436975_10 |
| rs8006145 | ESR2 | chr14:64232732 | C/A | A 0.245 | Prostate volume [19] | Intron variant | C__29383989_10 |
| rs867443 | ESR2 | chr14:64234324 | G/A | A 0.238 | Not reported | Intron variant | C___1436972_20 |
| rs17766755 | ESR2 | chr14:64249055 | G/A | A 0.327 | Benign prostatic hyperplasia [20] | Intron variant | C__34495232_10 |
| rs4365213 | ESR2 | chr14:64253546 | T/C | C 0.412 | Alzheimer disease in women with Down syndrome [21] | Intron variant | C__32395442_20 |
| rs6573549 | ESR2 | chr14:64254931 | T/C | C 0.422 | Not reported | Intron variant | C__32091355_10 |
| rs61984409 | ESR2 | chr14:64263303 | A/C | C 0.333 | Not reported | Intron variant | C__90266873_10 |
| rs7154455 | ESR2 | chr14:64269942 | G/C | C 0.290 | Not reported | Intron variant | C__29383994_10 |
| rs960069 | ESR2 | chr14:64278284 | C/T | C 0.443 | Not reported | Intron variant | C___1436935_10 |
| rs10137185 | ESR2 | chr14:64309058 | C/T | T 0.100 | Associated with FPHL [22] | Intron variant | C__29621308_10 |
| rs934634 | CYP19A1 | chr15:51208341 | C/T | T 0.190 | Not reported | Intron variant, 3 prime UTR variant | C___8794656_10 |
| rs2255192 | CYP19A1 | chr15:51208638 | C/T | T 0.189 | Not reported | Intron variant, 3 prime UTR variant | C__15798398_10 |
| rs4275794 | CYP19A1 | chr15:51208920 | T/C | C 0.190 | Not reported | Intron variant, 3 prime UTR Variant | C__32394041_10 |
| rs12148604 | CYP19A1 | chr15:51209207 | C/T | C 0.424 | Associated with sex hormone levels (estrone) [23] | Intron variant, 3 prime UTR variant | C__32071398_10 |
| rs4646 | CYP19A1 | chr15:51210647 | A/C | A 0.230 | Associated with FPHL, premature ovarian failure [12, 24] | Intron variant, 3 prime UTR variant | C___8234730_1_ |
| rs10046 | CYP19A1 | chr15:51210789 | G/A | G 0.422 | Associated with miscarriages [25] | Intron variant, 3 prime UTR variant | C___8234731_30 |
| rs2899470 | CYP19A1 | chr15:51211480 | T/G | T 0.348 | Serum oestrogen and oestrogen/testosterone ratio [26] | Intron variant | C___8234732_10 |
| rs12591172 | CYP19A1 | chr15:51211530 | G/A | G 0.420 | Not reported | Intron variant | C___8234742_10 |
| rs8029120 | CYP19A1 | chr15:51212737 | T/G | T 0.410 | Not reported | Intron variant | C___8234756_10 |
| rs749292 | CYP19A1 | chr15:51266534 | G/A | A 0.500 | Associated with ovarian cancer [27] | Intron variant | C___8801261_20 |
| rs6493497 | CYP19A1 | chr15:51338638 | G/A | A 0.092 | Associated with FPHL [11] | Upstream variant | C__29374681_10 |
| rs7176005 | CYP19A1 | chr15:51339082 | C/T | T 0.092 | Associated with FPHL [11] | Upstream variant | C_189237142_10 |
| rs752760 | CYP19A1 | chr15:51339282 | C/T | T 0.385 | Not reported | Upstream variant | C____798312_10 |
MAF – minor allele frequency, SNP – single nucleotide polymorphism, FAGA – female androgenetic alopecia.