Table 1.

Definitions of the function types, their effects and predicted risks of SNPs

Coding type	Function type	Possible effects	Risk (ranking)
Coding	Non-sense	Causes premature termination of an amino-acid sequence	Very high (5)
	Splicing regulation (abolishing protein domain)	Breaks the exonic splicing enhancer/silencer binding site in a coding sequence, leading to abolished protein domain	Moderate to high (3∼4)
	Splicing regulation	Breaks the exonic splicing enhancer/silencer binding site in a coding sequence containing the same protein domains	Low to moderate (2∼3)
	Mis-sense (non-conservative change)	Alters an amino acid in a protein to one with different structure characteristics	Moderate to high (3∼4)
	Mis-sense (conservative change)	Alters an amino acid in a protein to one with similar structure characteristics	Low to moderate (2∼3)
	Sense/synonymous	Does not alter an amino acid in a sequence	Very low (1)
Non-coding	Downstream with no known effect	No known effect	No known effect (0)
	Upstream with no known effect	No known effect	No known effect (0)
	Splicing site	Breaks a consensus splicing site sequence	Moderate to high (3∼4)
	Promoter/regulatory region	Does not alter an amino acid, but can affect the level, location or timing of a gene expression	Very low to moderate (1∼3)
	Intronic enhancer	Alters a binding site of a transcription factor in an intronic region	Very low to low (1∼2)
	Untranslated	Changes an UTR in a sequence	No known effect to very low (0∼1)
	3′utr post-transcriptional regulation	Breaks motifs likely to be involved in post-transcriptional regulation	Very low to moderate (1∼3)