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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
...