rs7868992 is located within an intron of COL27A1, the Type XXVII collagen alpha chain gene. COL27A1 is a fibrillar collagen primarily expressed in cartilage, though it is expressed in the cerebellum during many stages of human development.35-36 While non-fibrillar collagens have been implicated in various neurodevelopmental processes (e.g. axon guidance and synaptogenesis), the function of COL27A1 in the developing nervous system is unknown.37
