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Risk estimate based on observation.
A heritable change to gene function that affects a phenotype without a change of the DNA sequence or genotype.
Expressed sequence tag
NHLBI exome variant server database
All of the protein coding regions in the genome. (All of the exons in the entire human genome). Approximately 1% of the human genome. Currently, most known disease causing variants are located in the exome.
Determines all of the DNA base pairs in the regions of the genome which encode protein. Sequencing every exon of every gene in the genome. Compare to sequencing.
The portion of a gene present in messenger RNA and encodes for protein.
A DNA alteration located in an exon which may or may not alter an amino acid.