Table 1.
Genotype counts and allele frequencies in the Swedish schizophrenia exome samples and the UK10K severe childhood onset obesity cases and schizophrenia cases
| Variant | Swedish exomes | UK10K | |||
|---|---|---|---|---|---|
| Position on chromosome 12 (hg19); predicted effect | Controls | SCZ cases | Obese cases | SCZ cases | |
| SIFT; PolyPhen2; Mutation Taster | |||||
| rs145451295 | CC | 2523 | 2510 | 971 | 1374 |
| 132394378; T242I | CT | 4 | 16 | 1 | 11 |
| Tolerated; Benign; Polymorphism | MAF (%) | 0.079 | 0.32 | 0.051 | 0.40 |
| rs55815560 | CC | 2538 | 2533 | 978 | 1379 |
| 132401058; S665L | CT | 3 | 9 | 4 | 10 |
| Tolerated; Benign; Polymorphism | MAF (%) | 0.059 | 0.18 | 0.20 | 0.36 |
| rs145279005 | CC | 2535 | 2526 | 977 | 1384 |
| 132401539; A705V | CT | 10 | 19 | 5 | 6 |
| Deleterious; Probably damaging; Disease causing | MAF (%) | 0.20 | 0.37 | 0.25 | 0.22 |
| rs188342389 | CC | 2528 | 2523 | 969 | 1369 |
| 132405837; intronic | CT | 13 | 20 | 13 | 22 |
| N/A; N/A; Polymorphism | MAF (%) | 0.26 | 0.39 | 0.66 | 0.79 |
The effect of the variant is shown as the amino acid change at the relevant peptide position of ULK1 (NP_003556.1).