Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| region | SequenceLocation | 0..1 | Sequence on which the region is defined | SEPIO:0000279 | BenignMissenseVariationRateStatement |
| gene | @id | 0..1 | Gene that contains the missense variants | SEPIO:0000278 | BenignMissenseVariationRateStatement |
| statementOutcome | @id | 1..1 | The rate at which Benign missense variants occur within the region | SEPIO:0000197 | BenignMissenseVariationRateStatement |
| label | string | 0..1 | A name given to the resource. | RDFS:label | Entity |
| description | string | 0..1 | Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. | DC:description | Entity |
| userLabelDictionary | UserLabel | 0..* | An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. | SEPIO:0000422 | Statement |
| outcomeQualifier | string | 0..1 | Use “NOT” as the value of this property to assert that the statement is negated. | SEPIO:0000346 | Statement |
| evidenceLine | EvidenceLine | 0..* | supporting evidence | SEPIO:0000006 | Statement |
| contribution | Contribution | 0..* | The contributions (agent, time and role) made to this entity | SEPIO:0000159 | Statement |
| source | string | 0..* | A string indicating the source of a Statement | DC:source | Statement |
Instances
| ID | label | description | userLabelDictionary | outcomeQualifier | evidenceLine | region | gene | statementOutcome |
|---|---|---|---|---|---|---|---|---|
|
In LMM data alone, we have over 150 benign missense variants in TTN. |
(TTN) | (High) | ||||||
|
Based on the gene size, ExAC expects 740 missense variants to be observed, but actually observes only 420, giving a z score of 6.5, which is in the top 0.02% of genes. |
(MYH7) | (Low) | ||||||
|
ClinVar shows no benign missense variants in (or near) this region. The closest is NM_000169.2:c.8T>C |
(Low) |