Table 4 Priority list of variants that were found in the sample of interest and that are known to segregate in the breed (Labrador retriever) with an established genotype–phenotype association
Chromosome | Location | Gene | Reference | Allele 1 | Allele 2 | Zygosity | Inheritance | Phenotype |
|---|---|---|---|---|---|---|---|---|
12 | 2,652,874 | COL11A2 | C | C | G | Heterozygous | Autosomal recessive | Skeletal dysplasia 2 |
5 | 63,694,334 | MC1R | G | A | A | Homozygous | Autosomal recessive | Red/yellow coat |
X | 60,279,238 | ATP7A | C | C | T | Heterozygous | X linked recessive | Menkes disease |