For instance, rare or low-frequency variants causing rare diseases such as hearing impairment [29], corneal dystrophy [30], Stargardt disease [31], epilepsy [32], biotinidase [33], and butyrylcholinesterase deficiencies [34] were identified in South Asian populations (GIH, ITU, PJL, and STU). The gene discussed is BTD; the disease is corneal dystrophy.