SLC6A11 rs4684742, GABRB2 rs918528, and GABRA3 rs2061051 were all statistically significant in both the GWAS and the replication study, indicating that the GABA receptor signaling pathway may be involved in TD pathophysiology (Inada et al., 2008). The gene discussed is SLC6A11; the disease is thanatophoric dysplasia.