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% |
| Â | Â | 735 | A > G | rs2234693 | Intron 1 | SNPstream | 99.2% |
| Â | Â | 735 | A > G | rs9340799 | Intron 1 | SNPstream | 99.2% |
| Â | Â | 736 | C > T | rs2228480 | Exon 8 | SNPstream | 99.3% |
ERβ | Estrogen receptor β | 735 | T > C | rs3829768 | Promoter | SNPstream | 99.2% |
| Â | Â | 737 | G > A | rs1256049 | Exon 6 | SNPstream | 99.5% |
HSD17B1 | 17β-hydroxysteroid dehydrogenase 1 | 737 | G > T | rs676387 | Intron 4 | Sequenom | 99.5% |
| Â | Â | 732 | C > T | rs598126 | COASY : Exon | Sequenom | 98.8% |
| Â | Â | 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% |