PLD1 and Hirschsprung disease: Except for BACE2 that harbors an excess of rare protein-altering variants, they found that a common variation in four novel loci was associated with HSCR, which contains two intronic variants on calsequestrin 2 (CASQ2) and phospholipase D1 (PLD1), and two intergenic regions (one between SLC4A7 and EOMES on 3p24.1, another between LINC01518 and LOC283028 on 10q11.21).