Table 1.
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