Table I.
Common SNPs at the BMP15 locus genotyped in 933 twinning families and 1512 controls.
| SNP | Position* | Location | Amino acid change | Change (transcribed strand) | Minor allele frequency |
|---|---|---|---|---|---|
| rs5961228 | 50656568 | 5′ genomic | — | C>T | 0.135 |
| rs5961233 | 50663804 | 5′ genomic | — | C>A | 0.101 |
| rs9697841 | 50664677 | 5′ genomic | — | T>G | 0.061 |
| rs1857030 | 50667633 | 5′ genomic | — | T>A | 0.061 |
| c.-673C>T | 50671179 | 5′ genomic | — | C>T | 0.240 |
| rs3810682 | 50670515 | 5′ UTR | — | C>G | 0.232 |
| rs41308602 | 50670830 | Exon 1 | Asn103Ser | c.308A>G | 0.086 |
| rs12687730 | 50671338 | Intron 1 | — | T>C | 0.001 |
| rs3897937 | 50671756 | Intron 1 | — | T>C | 0.294 |
| rs17003221 | 50676020 | Exon 2 | Ser248Ser | c.852C>T | 0.005 |
| rs2382663 | 50679039 | 3′ genomic | — | G>A | 0.327 |
| rs7889321 | 50692668 | 3′ genomic | — | A>G | 0.038 |
*Genomic position according to NCBI Build 36.1.