Table 1.

Functional classes associated with polymorphisms in dbSNPa

Functional class	Definition
Null (inter‐gene or unspecified)	No functional annotation assigned in dbSNP
Gene locus region	Within 2kb 5′ or 500bp 3′ of a gene, but not in a transcribed region
Untranslated	In a transcribed region of the gene, but not in a coding region
Intronic	In an intron, excluding the first or last two intron bases
Splice junction	In the first or last two bases of an intron
Coding synonymous	Variant allele results in no amino acid change upon translation compared to reference contig allele
Coding non‐synonymous	Variant allele results in amino acid change upon translation compared to reference contig allele

^aAdapted from Kitts and Sherry (2006).