or SNP, is a single base-pair difference in the DNA sequence of individual members of a species; not necessarily a pathological mutation, but commonly studied as a covarying marker of complex ...

The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...