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Table 1 Single nucleotide polymorphisms evaluated in the present study

From: Polymorphisms in genes involved in the estrogen pathway and mammographic density

Gene name Encoded product N Alleles (major > minor) SNP reference ID a Gene Location Panel Call Rate
ERα Estrogen receptor α 728 T > C rs2077647 Exon 1 SNPstream 98.2%
   735 A > G rs2234693 Intron 1 SNPstream 99.2%
   735 A > G rs9340799 Intron 1 SNPstream 99.2%
   736 C > T rs2228480 Exon 8 SNPstream 99.3%
ERβ Estrogen receptor β 735 T > C rs3829768 Promoter SNPstream 99.2%
   737 G > A rs1256049 Exon 6 SNPstream 99.5%
HSD17B1 17β-hydroxysteroid dehydrogenase 1 737 G > T rs676387 Intron 4 Sequenom 99.5%
   732 C > T rs598126 COASY : Exon Sequenom 98.8%
   734 G > A rs2010750 TCFL4 : Intron Sequenom 99.1%
COMT Catechol-O-methyltransferase 735 G > A rs4680 Exon 4 Sequenom 99.2%
CYP1B1 Cytochrome P450 1B1 737 C > G rs1056836 Exon 3 Sequenom 99.5%
  1. a Polymorphisms are identified by their dbSNP accession number at http://www.ncbi.nlm.nih.gov/SNP/.