C9 and age-related macular degeneration: While rs34882957 would not be expected to alter gene expression or regulation, it has recently been shown to be associated with increased serum concentration (Geerlings et al., 2017) and in vitro with spontaneous polymerization (Kremlitzka et al., 2018), providing additional support that the variant has functional effects on C9 that could be involved in mediating AMD risk.