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

BMC Genomics

Table 4 Summary of OMIM annotations of predicted functional SNPs.

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

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.

ISSN: 1471-2164