Table 2.
List of the 16 Genes that Had the Highest Fraction of dbSNP Changes Predicted to Be Damaging by SIFT
| Genes with nsSNPs that had previously shown to be involved in disease |
| MSHR, encodes melanocyte stimulating hormone receptor |
| PPARα, encodes peroxisome proliferator activated receptor α |
| MTHFR, encodes methylenetetrahydrofolate reductase |
| FBN1, encodes fibrillin |
| APOA1, encodes apolipoprotein A-I |
| Genes containing dbSNP entries erroneously mapped from pseudogenes |
| AGP1, encodes α1-acid glycoprotein gene encoding hypothetical protein FKSG25 |
| Gene containing damaging mutations in redundant motifs |
| gene encoding hypothetical protein FLJ20079 |
| Genes with sequencing errors mistaken for polymorphisms |
| PSMB7, encodes proteasome subunit β7 |
| MYL6, encodes myosin light polypeptide 6 |
| RPL11, encodes 60S ribosomal protein L11 |
| FAU, encodes 40S ribosomal protein S30 |
| PSMC5, encodes 26S protease regulatory subunit 8 |
| TJP2, encodes tight junction protein 2 |
| EFNA2, encodes ephrin-A2 |
| XDH, encodes xanthine dehydrogenase |
