Table 1.
MAFs rs147546939.
| SNP | Chr. Position (chr 11) | Alleles | MAFa | MAFb | OCA cohort | TYR het and no mutation |
|---|---|---|---|---|---|---|
| rs187887338 | 88811249 | C/G | 0.01130 | 0.0167 | NA | NA |
| rs145409367 | 88845187 | C/T | 0.008135 | 0.0067 | NA | NA |
| rs1042602 (p.Ser192Tyr) | 88911696 | C/A (S/Y) | 0.3640 | 0.31 | 0.5783 | 0.7326 |
| rs529135220 | 88978983 | G/C | 0.0016 | 0.0067 | NA | NA |
| rs147546939 | 89011733 | A/G | 0.01799 | 0.0167 | 0.2043 | 0.2533 |
| rs1126809 (p.Arg402Gln) | 89017961 | G/A (R/Q) | 0.2725 | 0.28 | 0.3604 | 0.4811 |
(a) Non-Finish Europeans (gnomAD database). (b) Danish ancestry (Genome Denmark study).