Deleterious SNPs within and around genes under positive selection.

The number of deleterious and neutral nonsynonymous SNPs were tabulated using the European sample (CEU), except for EDAR, PCDH15 and LEPR, which were tabulated using the Asian sample (CHB+JPT). A111T in SLC24A5, one deleterious SNP in OCA2, and three neutral SNPs in flanking regions of LCT, SLC45A2, and SLC24A5 are fixed or nearly fixed in CEU.
1Putatively functional nonsynonymous SNPs under selection are in parentheses.
2The number of deleterious SNPs within flanking genes is in parentheses if greater than one.

本研究采用欧洲样本（CEU）统计有害非同义单核苷酸多态性（Single Nucleotide Polymorphism，SNP）与中性非同义SNP的数量，但EDAR、PCDH15及LEPR基因的相关统计采用亚洲样本（CHB+JPT）。SLC24A5基因的A111T位点、OCA2基因内的一处有害SNP，以及LCT、SLC45A2与SLC24A5基因侧翼区域的三处中性SNP，在CEU样本中已达到固定或近乎固定的频率。
1. 受选择的候选功能非同义SNP以括号标注。
2. 若侧翼基因内的有害SNP数量大于1，则将该数量以括号标注。