From the examples presented in this database (see [63]) we collected a set of 33 cis-regulatory SNPs in 5 distinct genes (PROC, TNF, HGB2, GP1BB, and F7) that are: a) known to be underlying or associated with inherited human diseases, b) known or predicted to disrupt transcription factor binding sites, and c) have flanking sequences available from the Human Gene Mutation Database [64] so that they could be used for mapping reliably to the human genome assembly. Here, TNF is linked to glycogen storage disease VI.