The Functional Single Nucleotide Polymorphism (F-SNP) database integrates information obtained from databases about the functional effects of SNPs. These effects are predicted and indicated at the splicing, transcriptional, translational and post-translational level. In particular, users can retrieve SNPs that disrupt genomic regions known to be functional, including splice sites and transcriptional regulatory regions. Users can also identify non-synonymous SNPs that may have deleterious effects on protein structure or function, interfere with protein translation or impede post-translational modification.
The metaregistry provides mappings between the Bioregistry and other registries. There are
3 mappings to external registries for
Providers are various services that resolve CURIEs to URLs. The example CURIE
fsnp:rs17852708 is used to demonstrate the provides available for
fsnp. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.