Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases

Table 2

Pathogenicity criteria for identified variants with no provided clinical significance.

SNP ID	Highest population MAF	Frequency in Iranome	CADD score	Segregation in the family
rs886041141	<0.01	None	22.2	Yes
rs374517178	<0.01	None	32	Yes
rs1159966472	<0.01	None	24.4	Yes

SNP ID: single-nucleotide polymorphism database identification; MAF: minor allele frequency; CADD score: combined annotation-dependent depletion score.