Table 1.
Sequencing summary of SCE2-CE
| SCE2-CE variant chromosomal position (hg19) | dbSNP # | Base change | Conservation | MAF (obese) | MAF (lean) |
|---|---|---|---|---|---|
| chr6:100658489 | rs187302277 | T/C | Mixed | 0.0114 | 0.0049 |
| chr6:100658548 | NA | C/T | Mammals | 0.0014 | |
| chr6:100658624 | NA | C/T | Stickleback | 0.0014 | |
| chr6:100658893 | rs182500930 | C/T | Stickleback | 0.0012 | |
| chr6:100658719 | NA | G/A | Stickleback | 0.0014 | |
| chr6:100658735 | NA | G/A | Stickleback | 0.0028 | |
| chr6:100659108 | rs192532320 | C/A | Opossum | 0.0055 | 0.0049 |
Sequencing of an obese cohort identified four rare SNPs that are not present in the lean controls cohort. One SNP, rs182500930, unique to the lean group is not present in the obese cohort and was identified in dbSNP. Two SNPs, rs18730227 and rs192532320, flanking the conserved SCE2 core element have also been previously reported and are present in both obese and lean cohorts without significant MAF differences.