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 Returns AACDS classification of a variant

Query by DNA    (Search by chromosome position with alternative nucleotide)
Coordinate (hg19) 
Alternate nucleotide 

Query by protein   (Search by gene or protein position with alternative amino acid)
Gene name
Amino acid position 
Alternate amino acid 
Uniprot accession    
   Search for variants with selected AACDS class/features within a gene or protein
Gene name
AACDS category 
Has high deleterious count?
  Has GWAS-documented gene-trait/gene-disease association?
Uniprot accession Has database-documented gene-disease association?
Has database-documented variant-disease association?
   Returns AACDS and prediction score statistics for each AACDS category.
Select output format Whole genome Input file




Algorithm description
AACDS classifies genomic variants in to 8 categories. Category 1 contains documented disease-causing nsSNP. Categories 2A and 3A represent nsSNPs in genes that have known associations with diseases (2A) or traits (3A), and these are sub-divided into categories 2B and 3B if they are also predicted to be deleterious by three or more programs. Category 4 comprises nsSNPs that are predicted to be damaging but lie in genes that have no clinical associations. Conversely, Category 5 nsSNPs are located in genes that have disease or trait associations, but variants are predicted to be neutral. Category 6 represents neutral nsSNPs, whose genes have no clinical relations.