Notable examples of the latter category include rs554847663 in OTOG and rs72474224 in GJB2 linked to autosomal recessive deafness, as well as the rs104893924 in SLC26A2 and rs199952377 in WDR35 causing multiple epiphyseal dysplasia and cranioectodermal dysplasia, respectively. The gene discussed is SLC26A2; the disease is cranioectodermal dysplasia.