Potentially Deleterious Missense Coding SNPs in the Qatari Genome Identified by Exome Sequencing1.

1In order to identify potentially deleterious missense health-linked SNPs in Qatar, genotypes of the 2,750 predicted to be potentially deleterious alternate alleles observed in QE7 were subdivided by frequency [≥1/14 or ≥6/14 alternate allele frequency] and by functional category.2In order to identify potentially deleterious SNPs of medical interest in Qatar, the 2,750 predicted to be potentially deleterious SNPs were subclassified into 3 groups based on prior link of the gene or SNP to a health-related phenotype using four major databases of disease and metabolism SNPs (OMIM [12], HGMD [37], PharmGKB [38] and HUGE [39]). 1st row - total number of potentially deleterious SNPs; 2nd row - number of potentially deleterious of SNPs where no SNP in the gene has been previously associated with a phenotype relevant to human health; 3rd row - SNPs in genes linked to human health, but the SNP has not been previously tested for phenotypic effect; and 4th - number of potentially deleterious SNPs where the specific SNP and gene has been reported to be health-linked. SNPs in the fourth row (previously identified) are not counted in the third row (in a gene, but not SNP, previously linked).31st column - the 2,750 SNPs where the potentially deleterious alternate allele was observed at least once in QE7 (≥1 of 14), representing 2% of the sites confidently genotyped in QE7, subdivided by the health-linked classification described above. 2nd column - the 339 potentially deleterious alleles observed at least 6 times in QE7 (12% of the 2,750), subdivided by the health-linked classification described above. For each column, percentages are based on the total in the first row for that column.