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Chromosome Coordinate (hg19) Reference nucleotide
Alternate nucleotide
Uniprot accession Amino acid position Reference amino acid
Alternate amino acid
Gene name
Gene other names
Protein name
AACDS category   Has high deleterious count? Deleterious predictions
Deleterious count
    Has GWAS-documented gene-trait/gene-disease association?
GWAS's disease/trait list (gene level)
    Has database-documented gene-disease association?
Database's disease list (gene level)
    Has database-documented variant-disease association?
Database's disease list (variant level)
 
Additional data      
Predictied deleteriousness scores Predicted sequence conservation scores %Minor allele frequency (ESP6500) Other information
SIFT GERP African American P(heteroinsufficiency)
Polyphen2 HDIV PhyloP European American P(recesssive)
Polyphen2 HVAR SiPhy        
LRT            
MutationTaster        
MutationAssessor        
         
...