Fig. 1: Phenome-wide association scan (PheWAS) for 10 common variants of MC1R, 9 missense variants, and 1 nonsense MC1R variant. | Genetics in Medicine

Fig. 1: Phenome-wide association scan (PheWAS) for 10 common variants of MC1R, 9 missense variants, and 1 nonsense MC1R variant.

From: Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

Fig. 1

(a) Circle graph showing associations for 1886 PheCodes mapped from the electronic health record (EHR). The dotted line represents the –log10 Bonferroni corrected p value for each variant (range is 4.2–4.28 for IDT-sequenced group and 4.29–4.55 for VCR sequenced group). Significant association were almost exclusively observed among dermatologic and neoplasm PheCode classes in the PheWAS analysis. (b, c) Manhattan plot for association of dermatologic and neoplasms of skin PheCodes with MC1R variants.

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