However, for a specific query disease, the alteration of the function of a gene hosting an SNV does not necessarily mean the association between the gene and the query disease, as we have analyzed previously that the SNVs occurring in ABCB4 may cause three diseases intrahepatic cholestasis of pregnancy, progressive familial intrahepatic cholestasis type 3 and gallbladder disease type 1. Here, ABCB4 is linked to progressive familial intrahepatic cholestasis type 3.