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. 2018 Jan 4;115(4):E676–E685. doi: 10.1073/pnas.1708207114

Table 3.

rs7560738 (in TMEM163) associations with the eyes phenotype PC1 upper extreme in the combined sexes

Discovery (both sexes) aa Aa AA P value OR
Extremes 9 30 103 4.39 × 10−7 10.15
Controls 20 577 2,422
Replication (female only)
 Extremes 3 23 57 2.50 × 10−3 5.12
 Controls 29 729 3,040 FDR = 0.026
Combined
 Extremes 12 53 160 4.00 × 10−8 7.32
 Controls 29 729 3,040

Minor allele (a) frequency 0.107. P values and OR are for the minor allele (aa) recessive homozygote; FDR by Benjamini and Hochberg procedure (37); All imaged individuals were used in the discovery analysis. The number of controls for discovery is the total number of genotyped individuals, 3,161, minus the number of extremes, 142. The number of controls for replication and combined is the number for discovery (3,019) plus the number of genotyped and phenotyped twins (∼865) minus the number of extreme twins (83). The discrepancy of 3 is a function of the way the twins are analyzed using random permutation.