Significant associations were only observed in the original mechanistic phenotype associated with the nsSNP, with the exception of BRCA1 which was not associated with the HEM phenotype originally identified, but was associated with all cancers (OR = 8.1, p = 0.04), as 9 of the 10 homozygotes for this allele in the VESPA replication data set had a cancer diagnosis (Table 5). The gene discussed is BRCA1; the disease is Greenberg dysplasia.