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. 2025 Jan 2;16:60. doi: 10.1038/s41467-024-55198-7

Table 1.

Genome-wide significant associations with retinal pigment score in the UK Biobank cohort

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.