Table 1.
Potential Pathogenic Protein-coding Rare Variants Identified in 2 Families
| Gene | dbSNP ID | Chr | Position (hg19) | Function | CADD | PolyPhen2 (Score) | Minor/Major | MAF (gnomAD) | Family | Mean PRS of Affected Members | Number of Affected Members Carrying the Risk Allele (Total Number of Affected Members in the Family) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAM15 | rs757672473 | 1 | 155028673 | Missense, p.Arg288Cys | 26.1 | Probably damaging (1) | T/C | 0.0003 | A | 0.47 | 6 (7) |
| F2RL2 | rs147969213 | 5 | 75913666 | Missense, p.Leu289Arg | 24.7 | Probably damaging (1) | G/A | 0.0001 | B | –0.6 | 5 (5) |
ADAM15 = a disintegrin and metalloprotease, metallopeptidase domain 15; CADD = Combined Annotation Dependent Depletion; dbSNP ID = single nucleotide polymorphism database identifier; Chr = chromosome; F2RL2 = coagulation factor II thrombin receptor-like 2; MAF = minor allele frequency; PRS = polygenic risk score based on known variants associated with age-related macular degeneration.