BBS12 and Bardet-Biedl syndrome: These variants are on the same haplotype (for rs377070 and rs309403, r2 = 0.93; for rs377070 and rs309394, r2 = 0.8), and are eQTLs for CETNN4P and BBS12. BBS12 encodes a membrane trafficking chaperone protein widely expressed in the haematopoietic system, and inherited BBS12 mutations cause Bardet-Biedl syndrome (26).