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Table 1 SNPs examined in the SWAN Genetics Study

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

17-β HSD chromosome 17q11-q21
rs Number Other common designation of SNP Affected allelesa Region of affected DNA sequence Change in amino acid
   rs615942 HSD615942b G/T Missense, amino acid position 55, codon position 2, C → A exon 2 Ser → Tyr
   rs592389 HSD592389 G/T 3' Near gene N/A
   rs2830 HSD17B2830 A/G 5' Untranslated region exon 1 N/A
ESR1 chromosome 6q25.1
   rs9340799 ESRA464, XbaI RFLP A/G Intron 1 N/A
   rs2234693 ESRA418, PvuII RFLP T/C Intron 1 N/A
   rs728524 ESR728524 A/G Intron 4 N/A
   rs3798577 ESR3798577 T/C 3' Untranslated region exon 8 N/A
ESR2 chromosome 14q23.2
   rs1256030 ESR1256030 C/T Intron 2 N/A
   rs1255998 ESR1255998 C/G 3' Untranslated region exon 9 N/A
   rs1256049 ESR1256049, V328V, RsaI G/A Synonymous, amino acid position 328 (valine), codon position 3 exon 6 N/A
CYP1A1 chromosome 15q22-q24
   rs2606345 CYP2606345, -1806 C/A Intron 1 N/A
   rs4646903 CYP1A1250, MspI, m1, T6235C T/C 3' Near gene N/A
   rs1531163 CYP1531163, -11781 promoterc A/G Synonymous, amino acid position 294 (lysine), codon position 3 exon 8 N/A
   rs1048943 CYP1048943, CYP1A1*2C, A2455G, m2, 6750 A>G A/G Missense, amino acid position 462, codon position 1 A → G exon 7 Ile → Val
CYP1B1 chromosome 2p21
   rs1800440 CYP1800440, N453S, A4390G, CYP1B1*4 A/G Missense, amino acid position 453, codon position 2 A → G exon 3 Asn → Ser
   rs162555 CYP162555 d T/C Intron 2 N/A
   rs1056836 CYP1056836, CYP1B1*3, Leu432Val, 4326C>G, C1294G, m1 C/G Missense, amino acid position 432, codon position 1 G → C exon 3 Val → Leu
CYP19A1 chromosome 15q21.1
   rs700519 CYP19R264 C/T Missense, amino acid position 264, codon position 1 C → T exon 7 Arg → Cys
   rs2414096 CYP194096 G/A Intron 2 N/A
   N/A CYP194947, hCV8234946 A/G Intron 1 N/A
   rs1008805 CYP198805 T/C Intron 1 N/A
   rs2446405 CYP196405a T/A Intron 1 N/A
   rs2445759 CYP195759 G/T Intron 1 N/A
   rs936306 CYP196306 C/T Intron 1 N/A
   rs749292 CYP199292 G/A Intron 1 N/A
  1. aReference (higher frequency) allele is listed first. bEncodes Coenzyme A synthase. cEncodes lectin, mannose-binding, 1-like. dEncodes LOC732 hypothetical protein. eEncodes gliomedine.