Table 1.
TSC1 and TSC2 SNPs used to generate haplotype structure
| Gene | rs# | Location | Allele |
|---|---|---|---|
| TSC1 | 3761840 | Intron 2 | C/T |
| 11243929 | Intron 19 | C/T | |
| 2809243 | Exon 22, 3′UTR | A/G | |
| 739441 | Exon 22, 3′UTR | C/T | |
| 2519757 | Intron 16 | C/T | |
| 739442 | Exon 22, 3′UTR | A/G | |
| 11243940 | 5′end (not in gene) | A/G | |
| 10491534 | 3′UTR | C/T | |
| 2809244 | 3′UTR | A/C | |
| 7026607 | Intron 1 | A/G | |
| 1076160 | Intron 19 | C/T | |
| 7874234 | Intron 1 | C/T | |
| 7865232 | Intron 8 | C/T | |
| 6597584 | Intron 19 | A/C | |
| 13295634 | Intron 5 | G/T | |
| 7870151 | Intron 13 | A/C | |
| 4419933 | Intron 1 | C/T | |
| 1073123 | Exon 10, missense mutation | A/G | |
| TSC2 | 2074969 | Intron 11 | A/G |
| 17654678 | Intron 15 | G/T | |
| 30259 | Intron 32 | C/T | |
| 13335638 | Intron 37 | C/T | |
| 8063461 | Intron 16 | A/G | |
| 2074968 | Intron 10 | C/G | |
| 2073636 | Intron 5 | A/G | |
| 8050755 | Intron 16 | C/T | |
| 13331451 | Intron 22 | C/T | |
| 7190284 | Intron 16 | A/C | |
| 1800720 | Intron 5 | C/T | |
| 12325450 | Intron 20 | C/T | |
| 13337626 | Exon 23 | C/T | |
| 8047396 | Intron 26 | C/G |
UTR untranslated region