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