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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.
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Breast Cancer Research

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