Summary of genetic variation identified in NCAM1.

The location of each variant (NCBI 37/hg19 build) relative to known exons is shown, with exon locations indicated, and coding SNPs indicated with asterisks. The minor allele frequency (MAF) of each variant in all samples (BP+1 kG) and the BP and 1 kG cohorts separately is given. The frequency difference (freqDIFF) was calculated relative to 1 kG allele frequency, with absolute frequency differences greater than 5% indicated in bold text, and those with p values aFor each polymorphism, the minor allele is listed first.vSNPs verified by direct genotyping are indicated.