Summary statistics of <i>PAX6</i> SNPs in the initial study and the replication study: Genotype counts, Hardy-Weinberg equilibrium testing, minor allele frequencies and single-marker association analysis.^a

aThe SNPs are arranged in sequential order from the 5′ end to the 3′ end of the sense strand of the PAX6 gene, and are also designated as S1 to S16 for the sake of easy reference and discussion. The major allele is designated as “1” and minor allele as “2”; and the genotype counts are indicated as the counts of the genotypes 11, 12 and 22, respectively. HWE stands Hardy-Weinberg equilibrium. Single-marker association analysis is performed under five models for each SNP: genotypic (Geno), additive (Add; tested by Armitage trend test), dominant (Dom), recessive (Rec) and allelic models. However, only the best result and the corresponding model are shown for each SNP. Note that single-marker analysis did not show significant results for any of the 16 SNPs tested.本数据集中的单核苷酸多态性（Single Nucleotide Polymorphism，SNPs）按照PAX6基因正义链从5'端至3'端的顺序依次排列，为便于引用与讨论，将其依次标记为S1至S16。研究中将主要等位基因标记为"1"，次要等位基因标记为"2"；基因型计数分别对应11型、12型与22型的样本数。HWE即哈迪-温伯格平衡（Hardy-Weinberg equilibrium）。针对每个单核苷酸多态性，我们采用五种模型开展单标记关联分析：基因型模型（Geno）、加性模型（Add；通过阿米特奇趋势检验（Armitage trend test）验证）、显性模型（Dom）、隐性模型（Rec）与等位基因模型。但仅展示每个单核苷酸多态性的最优分析结果及其对应模型。需注意：本次测试的16个单核苷酸多态性均未在单标记关联分析中得到显著结果。