Benign Missense Variation Rate Outcome Value Set

The rate of missense variation in a transcript that do not lead to a genetic condition

SEPIO:0000349

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