Figure 2.

Haploblock structure of the genomic region encompassing the COL8A1 gene and the age-related macular degeneration-associated common intergenic variant rs140647181. A Haploview plot was generated based on common single nucleotide variants extracted from the 1000 Genomes phase 3 dataset. Red triangles marked with black lines represent genomic regions that are closely linked and are inherited together. This haplotype block distribution shows that the rare protein-altering variants identified in the COL8A1 gene (indicated with an asterisk) are not located in the same haplotype block as rs140647181, meaning that the rare variants are not inherited together with the common intergenic variant. This supports that the rare variant burden in COL8A1 is independent of the common intergenic variant rs140647181.