Not much is known about the function of C16orf97. However, SALL1 was identified by DEPICT as being the most likely causal gene for the rs6499762 association; mutations in SALL1 cause Townes-Brocks syndrome (69), a condition characterized by hand malformations, abnormally shaped ears and anal atresia, among other genital malformations (70). This evidence concerns the gene SALL1 and imperforate anus.