Skip to main content

Table 3 Allele frequencies of SWAN Genetics Study participants by race/ethnicity

From: Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women

   Estimated frequencies
Locus Allele All African White Chinese Japanese
17β-HSD       
   rs615942 G 0.52 0.64 0.47 0.55 0.56
  T 0.48 0.36 0.53 0.45 0.44
   rs592389 A 0.50 0.41 0.475 0.56 0.56
  C 0.50 0.59 0.53 0.44 0.44
   rs2830 A 0.50 0.59 0.53 0.44 0.44
  G 0.50 0.41 0.47 0.56 0.56
ESR1       
   rs9340799 A 0.72 0.73 0.65 0.77 0.82
  G 0.28 0.27 0.35 0.23 0.18
   rs2234693 C 0.46 0.46 0.46 0.41 0.48
  T 0.54 0.54 0.54 0.59 0.52
   rs728524 A 0.89 0.76 0.98 0.81 0.81
  G 0.11 0.24 0.02 0.19 0.188
   rs3798577 C 0.46 0.41 0.48 0.45 0.45
  T 0.54 0.59 0.52 0.55 0.55
ESR2       
   rs1256030 C 0.61 0.75 0.57 0.70 0.58
  T 0.39 0.25 0.43 0.30 0.42
   rs1255998 C 0.68 0.50 0.89 0.37 0.54
  G 0.32 0.50 0.11 0.63 0.46
   rs1256049 A 0.18 0.11 0.02 0.45 0.30
  G 0.82 0.89 0.98 0.55 0.70
CYP1A1       
   rs2606345 A 0.37 0.18 0.66 0.06 0.05
  C 0.63 0.82 0.34 0.94 0.95
   rs4646903 A 0.75 0.71 0.89 0.54 0.61
  G 0.25 0.29 0.11 0.46 0.39
   rs1531163 A 0.88 0.66 0.95 0.84 0.80
  G 0.12 0.34 0.05 0.16 0.20
   rs1048943 A 0.88 0.98 0.96 0.75 0.76
  G 0.12 0.02 0.04 0.25 0.24
CYP1B1       
   rs1800440 A 0.89 0.90 0.80 1.00 1.00
  G 0.11 0.10 0.20 0.004 0.006
   rs162555 C 0.12 0.16 0.19 0.04 0.01
  T 0.88 0.84 0.81 0.96 0.99
   rs1056836 C 0.69 0.33 0.59 0.88 0.86
  G 0.31 0.67 0.41 0.12 0.14
CYP19       
   rs700519 A 0.12 0.13 0.04 0.14 0.29
  G 0.88 0.88 0.96 0.86 0.71
   rs2414096 A 0.43 0.25 0.50 0.46 0.32
  G 0.57 0.75 0.50 0.54 0.68
   4947a A 0.52 0.71 0.55 0.39 0.49
  G 0.48 0.29 0.45 0.61 0.51
   rs1008805 C 0.36 0.16 0.42 0.28 0.37
  T 0.64 0.84 0.58 0.72 0.63
   rs2446405 A 0.32 0.52 0.18 0.47 0.45
  T 0.68 0.48 0.82 0.53 0.55
   rs936306 C 0.73 0.40 0.85 0.70 0.60
  T 0.27 0.60 0.15 0.30 0.40
   rs2445759 G 0.96 0.92 0.93 1.00 1.00
  T 0.04 0.08 0.07 0.004 0.003
   rs749292 A 0.44 0.51 0.44 0.50 0.36
  G 0.56 0.49 0.56 0.50 0.64
  1. aNo corresponding dbsnp rs number; commonly referred to as CYP194947.