Table 1. Association of coding variants with the cataract phenotype in Romagnola cattle.
Genotype | Cases | Obligate carriersa | Romagnola population controlsb |
ENSBTAG00000039845: c.687G>C | |||
G/G | 535 | ||
G/C | 5 | 36 | |
C/C | 4 | ||
NID1: c.3579_3604+829del | |||
wt/wt | 1012 | ||
wt/del | 5 | 45 | |
del/del | 4 |
Parents of affected offspring were classified as obligate carriers.
A larger cohort was genotyped for the NID variant to evaluate the frequency of the defect allele within the breed.