Figure 4:
Screenshot of a gnomAD database search for the KCNE1 gene. The gnomAD database aggregates and harmonizes exome and genome sequencing data from a variety of large-scale sequencing projects, and provides summary data available for the wider scientific community. As of December 2018, the gnomAD data set comprised sequence data spanning 125,748 exomes and 15,708 genomes from unrelated individuals of different ethnicities that were sequenced as part of various disease-specific and population genetic studies, totalling 141,456 individuals. The low-frequency p.Asp85Asn variant that has been associated with QT-interval and susceptibility to LQTS and drug-induced long QT syndrome, is indicated by the red arrow. Through the browser, one can appreciate aspects such as the tolerance of the gene to different types of variant categories (in the form of an observed / expected (oe) metric), as well as the genomic position, allele count and allele frequency of detected variants. More details at18–20.