Summary
- IRI
- SEPIO:0000349
- Name
- Benign Missense Variation Rate Outcome Value Set
- Description
- The rate of missense variation in a transcript that do not lead to a genetic condition
Included Codes
This value set includes codes from the following identifier systems:
- Include any concept from
http://purl.obolibrary.org/obo/sepio#
( Scientific Evidence Provenance Information Ontology )
Expansion
This value set is extensible and therefore can be extended to include concepts from the listed identifier systems by adding on the fly concepts defined by a sending system if no viable option from any of the identifier systems is acceptable.
This value set contains 2 concepts.
IRI | Label | Description |
---|---|---|
SEPIO:0000265 | High | |
SEPIO:0000266 | Low |