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coga / coga-kb
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Chunk #4 — INTRODUCTION — SNP prioritization

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FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.
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For a coding SNP, if it is non-synonymous and alters an amino acid in a protein resulting in a different protein structure (mis-sense, non-conservative change), or a non-sense change that results in a premature termination of the amino acid sequence (non-sense), then it will be assigned a high-risk or very high-risk ranking, because most known disease-causing SNPs are in these classes. A non-synonymous SNP that alters an amino acid in a protein to one with similar structural characteristics will be classified as ‘mis-sense, conservative change’ with a moderate risk ranking.