Table 1.
Properties | # SNPs | % SNPs |
nsSNPs covered by high quality structural data | ||
No additional criteria | 9877 | 7.4 |
Sequence coverage > 80 or alignment length > 100 | 8238 | 6.2 |
Sequence identity > 80 | 5416 | 4.1 |
Sequence coverage > 80 or alignment length > 100, and sequence identity > 80 | 5318 | 4.0 |
Highly reliable nsSNPs covered by high quality structural data | ||
Doublehit validation status, MAF > 0.01 | 680 | 0.51 |
Doublehit validation status, MAF > 0.01, sequence identity > 80 | 229 | 0.17 |
Doublehit validation status, MAF > 0.01, sequence coverage > 80 or alignment length > 100 | 446 | 0.33 |
Doublehit validation status, MAF > 0.01, sequence coverage > 80 or alignment length > 100, and sequence identity > 80 | 209 | 0.16 |
Several criteria resulting from the above analyses are applied to assess the structural coverage and reliability of that coverage of human SNPs in the Ensembl database, as well as the overlap of the structural coverage with quality parameters for the validation and frequency status of the polymorphism data.