Skip to main content

Table 4 Summary of OMIM annotations of predicted functional SNPs.

From: Mouse SNP Miner: an annotated database of mouse functional single nucleotide polymorphisms

Overall SNP Consequence Redundant Genes Effected OMIM Entries
non-synonymous (damaging SNPs) 803 859
stop-gained 90 99
stop-lost 14 15
splice-site 114 116
frameshift 36 37
  1. Greater than 15% of genes containing at least one predicted functional SNP (splice site, frame shift, STOP-gain, STOP-lost, deleterious missense according to Polyphen) in the database have human orthologs found in the OMIM database of disease-associated mutations.