MOESM3 of Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Additional file 3: Table S1. Genotype distribution of 41 candidate causal mutations for Weaver syndrome in 1147 animals. The distribution of the genotypes of 41 candidate causal mutations (McClure et al. [23]) for Weaver syndrome in 1147 animals sequenced in the course of the 1000 bull genomes project was analyzed. The sequenced animals were grouped by breed. Numbers represent the within-breed frequency of the alternative allele. The distribution of genotypes for each breed is given in parentheses (homozygous animals for the reference allele | heterozygous animals | homozygous animals for the alternative allele). The grey background indicates candidate causal variations within the 1.72-Mb segment of extended homozygosity. Blue color indicates two variants that were perfectly associated with the Weaver status of 1147 sequenced animals. However, only one compatible variant (rs800397662, Chr4:49,878,773Â bp) is located within the segment of extended homozygosity.