Figure 7.

The penetrance of a mutation lies on a scale between 'True SNPs' which show no phenotypic effect at one extreme to Mendelianly inherited PDs with 100% penetrance at the other. In SAAPdb, we use a very conservative definition of PDs, but a rather wide definition of SNPs. In contrast, HumVar uses a somewhat broader definition of PDs, but a much more conservative definition of SNPs and does not consider mutations that lie in the middle.

Al-Numair and Martin BMC Genomics 2013 14(Suppl 3):S4   doi:10.1186/1471-2164-14-S3-S4