HuRef nsSNPs with known disease associations.

aAll of these SNPs were heterozygous in HuRef.
bOR = odds ratio. We note that these associations should be interpreted with caution because there are disagreements in the published literature [94], [96]–[98]. Additional genotype-phenotype relationships for this individual can also be found in Table 13 of [16].
cThree nsSNPs have been shown to cause reduced protein activity. Of these, two are predicted to affect function.
dThree nsSNPs associated with disease but for which enzymatic assays have not yet been carried out (to the best of our knowledge) and are presumed to be involved in disease. It is possible that these nsSNPs are not the etiological variants but instead they could be in linkage disequilibrium with the etiological variants. One of these three nsSNPs is predicted to affect protein function.