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Table 1.

The distributions of human pigmentary phenotypes in the five component studies

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Figure 1.

Quantile-quantile plot of the -log10 p-values from an analysis of the initial GWAS that did not adjust for principal components of genetic variation (black dots) and an analysis that did adjust for the four largest principal components (red dots).

p-values smaller than 10−8 are not plotted.

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Figure 2.

-log10 p-values from the primary test of association with hair color in the initial GWAS, by position along chromosome.

Only p-values smaller than 0.05 are plotted.

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Table 2.

Thirty-eight SNPs with the smallest p-values of the 528,173 tested for association of hair color in the initial GWAS of in 2,287 women of European ancestry

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Table 3.

Thirty-one SNPs among the controls in the skin cancer study within the NHS, and pooled with the GWAS data

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Figure 3.

Association analysis of SNPs across IRF4 region.

-log10 p-values from the primary test of association with hair color in the initial GWAS (top panel), from the test of association with hair color excluding individuals with red hair (middle), and from the test of association with red hair versus non-red hair (bottom). The region plotted spans Chr6:95272.789899 (NCBI build 35).

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Table 4.

Association of IRF4 SNP rs12203592 and SLC24A4 SNP rs12896399 with pigmentary phenotypes in five studies

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Table 5.

Distributions of IRF4 rs12203592 and SLC24A4 rs12896399 with pigmentary phenotypes in the pooled five studies

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Table 6.

Association between SNPs in EXOC2 and IRF4 and hair color (black to blonde)

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