Table 1.
mRMR-ranked MC1R variants in red versus dark hair colour
| mRMR rank | Variant | Function | MAF | Info score | Penetrance | mRMR score | |
|---|---|---|---|---|---|---|---|
| 1 | rs1805007 | Missense | 1.03e-2 | 1 | R | 1.28e-1 | |
| 2 | rs1805008 | Missense | 8.3e-2 | 1 | R | 3.58e-2 | |
| 3 | rs1805009 | Missense | 2.8e-2 | 0.93 | R | 2.17e-2 | |
| 4 | rs2228479 | Missense | 9.7e-2 | 1 | r | 8.4e-3 | |
| 5 | rs312262906 | Frameshift | 5.5e-3 | 0.82 | R | 7.1-e3 | |
| 6 | rs11547464 | Missense | 7.2e-3 | 1 | R | 4.4e-3 | |
| 7 | rs885479 | Missense | 4.6e-2 | 1 | r | 4.1e-3 | |
| 8 | rs1805006 | Missense | 1.22e-2 | 1 | R | 3.56e-3 | |
| 9 | rs555179612 | Frameshift | 1.93e-3 | 1 | R | 3.25e-3 | |
| 10 | rs1805005 | Missense | 1.11e-1 | 1 | r | 2.45e-3 |
The designations R, high-penetrance, and r, low-penetrance, are based on previously reported associations with red hair. Info score is a measure of imputation quality.