Table 1.
Rs identifier | chr:pos [hg19] | EA/OA (EAF) | Beta (95% CI) | P | Nearest gene | Hair colour | Skin colour | Eye colour | Replicated |
---|---|---|---|---|---|---|---|---|---|
rs6670870 | 1:205155177 | A/T (0.76) | −0.09 (−0.11; −0.08) | 8.7E−36 | DSTYK | Yes | |||
rs173273 | 1:212446689 | G/T (0.41) | 0.04 (0.02; 0.05) | 2.9E−08 | PPP2R5A | Yes | Yes | ||
rs762948237 | 3:129178587 | TCTTC/T (0.87) | 0.05 (0.03; 0.07) | 2.3E−08 | IFT122 | ||||
rs16891982 | 5:33951693 | C/G (0.02) | 0.52 (0.48; 0.56) | 1.5E−135 | SLC45A2 | Yes | Yes | Yes | Yes |
rs12203592 | 6:396321 | C/T (0.79) | 0.13 (0.11; 0.14) | 2.4E−59 | IRF4 | Yes | Yes | Yes | Yes |
rs62425803 | 6:134330249 | G/A (0.81) | 0.05 (0.04; 0.07) | 1.4E−11 | TCF21 | Yes | |||
rs117756744 | 7:100277212 | G/A (0.98) | 0.18 (0.14; 0.23) | 5.4E−17 | GNB2 | Yes | Yes | Yes | |
rs1325117 | 9:12613472 | G/A (0.36) | 0.06 (0.05; 0.07) | 3.0E−19 | TYRP1;LURAP1L | Yes | Yes | Yes | |
rs11023814 | 11:16007053 | C/G (0.43) | 0.04 (0.03; 0.06) | 2.2E−12 | SOX6 | Yes | Yes | ||
rs150527451 | 11:68817897 | G/A (0.89) | 0.16 (0.14; 0.18) | 1.7E−53 | TPCN2 | Yes | Yes | Yes | |
rs1060435 | 11:68855595 | A/G (0.59) | 0.07 (0.05; 0.08) | 1.1E−24 | TPCN2 | Yes | Yes | Yes | Yes |
rs747572 | 11:87885082 | A/G (0.63) | 0.05 (0.04; 0.06) | 4.9E−14 | CTSC | Yes | Yes | Yes | |
rs1126809 | 11:89017961 | G/A (0.7) | 0.07 (0.06; 0.09) | 5.0E−27 | TYR | Yes | Yes | Yes | Yes |
rs4762973 | 12:20710145 | A/G (0.75) | 0.06 (0.04; 0.07) | 7.8E−15 | PDE3A | ||||
rs10771034 | 12:23979199 | T/A (0.45) | −0.04 (−0.06; −0.03) | 1.1E−12 | SOX5 | Yes | Yes | Yes | |
rs766338951 | 13:95169060 | CT/C (0.69) | 0.08 (0.06; 0.09) | 4.6E−30 | DCT | Yes | Yes | ||
rs1800407 | 15:28230318 | C/T (0.91) | 0.11 (0.09; 0.13) | 1.8E−23 | OCA2 | Yes | Yes | Yes | Yes |
rs12913832 | 15:28365618 | A/G (0.22) | 0.44 (0.43; 0.46) | 0.0E+00 | HERC2 | Yes | Yes | Yes | Yes |
rs7220155 | 17:79606020 | C/T (0.62) | −0.06 (-0.07; −0.05) | 9.2E−22 | TSPAN10 | Yes | Yes | Yes | |
rs1785433 | 21:44783282 | A/G (0.65) | −0.04 (-0.05; −0.02) | 1.3E−08 | SIK1 | Yes |
Variants that met the replication threshold of two-sided p < 0.05 measured with the chi-square test statistic in the EPIC-Norfolk replication GWAS are indicated in the ‘Replicated’ column. There are 3 columns to indicate which variants have previously been shown to be associated with hair, skin or iris colour.