Gene | Locus | Reference sequence | Type of alteration | Base change (context sequence) | Global MAF |
---|---|---|---|---|---|
ESR1 | 6q25.1 | rs2234693 | Intron variant | AGC[C/T]GTT | 0.4463/2235 |
ESR2 | 14q23.2 | rs4986938 | Intron variant, non-coding transcript variant, UTR variant 3 prime | AGC[C/T]TGT | 0.2598/1301 |
ESR2 | 14q23.2 | rs1256049 | Intron variant, non-coding transcript variant, synonymous codon | CCG[C/T]ACT | 0.1296/649 |