Appendix 3 of Li, Mol Vis 2016; 22:161-167.


Appendix 3. Rare variants identified in 298 patients with eoHM and 507 controls

To access the data, click or select the words “Appendix 3.” Note: NA, not available; Hetero, heterozygous; §, Samples from patients with other eye diseases, including glaucoma and retinal degeneration; #, Databases including 1000Genomes, Exome Variant Server, dbSNP, and Exome Aggregation Consortium. ⱡ, Allele frequency found in Exome Aggregation Consortium database but not found in any other databases.