The PDF file includes:

• Supplementary Text
• Fig. S1. The distribution of the target diagnoses in premutation carriers and controls for codes received before age 60.
• Fig. S2. The distribution of the target diagnoses in premutation carriers and controls for codes received before age 80.
• Fig. S3. The distribution of the target diagnoses in premutation carriers and controls based on lifetime diagnoses.
• Fig. S4. Manhattan plots of unadjusted −log₁₀ (P values) for phecodes observed before age 60.
• Fig. S5. Manhattan plots of unadjusted −log₁₀ (P values) for phecodes observed before age 80.
• Fig. S6. Manhattan plots of unadjusted −log₁₀ (P values) for lifetime phecodes.
• Table S1. Phenotypic association with FMR1 premutation reported in published literature, identified by KinderMiner.

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Other Supplementary Material for this manuscript includes the following:

• Data S1 (Microsoft Excel file). Lists of the first 100 variables that contributed in the classification of female premutation carriers (n = 72) versus control (n = 507).
• Data S2 (Microsoft Excel file). Lists of the first 100 variables that contributed in the classification of male premutation carriers (n = 26) versus control (n = 494).
• Data S3 (Microsoft Excel file). Linear regression models based on PheWAS phenotypes of female participants.
• Data S4 (Microsoft Excel file). Linear regression models based on PheWAS phenotypes of male participants.