Scope and Usage
The population in which allele frequency is determined is defined based on features such as ethnicity, nationality, geography, socio-economic status, etc.
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| allele | CanonicalAllele | 0..1 | The variant for which the frequency is given | SEPIO:0000275 | PopulationAlleleFrequencyStatement |
| alleleFrequency | number | 0..1 | Frequency of the named allele in the population | SEPIO:0000297 | PopulationAlleleFrequencyStatement |
| population | @id | 0..1 | Ancestry of population or group over which the frequency was measured | SEPIO:0000277 | PopulationAlleleFrequencyStatement |
| alleleCount | integer | 0..1 | Frequency numerator: number of times the allele was observed | SEPIO:0000296 | PopulationAlleleFrequencyStatement |
| alleleNumber | integer | 0..1 | Frequency denominator: number of observations | SEPIO:0000298 | PopulationAlleleFrequencyStatement |
| individualCount | integer | 0..1 | Number of individuals sampled | SEPIO:0000302 | PopulationAlleleFrequencyStatement |
| homozygousAlleleIndividualCount | integer | 0..1 | Number of individuals in the group that are homozygous for the allele | SEPIO:0000301 | PopulationAlleleFrequencyStatement |
| heterozygousAlleleIndividualCount | integer | 0..1 | Number of individuals in the group who are heterozygous for the allele. | SEPIO:0000300 | PopulationAlleleFrequencyStatement |
| hemizygousAlleleIndividualCount | integer | 0..1 | Number of individuals in the group that are hemizygous for the allele | SEPIO:0000299 | PopulationAlleleFrequencyStatement |
| medianCoverage | number | 0..1 | Median coverage at the allele site in the data set | SEPIO:0000303 | PopulationAlleleFrequencyStatement |
| ascertainment | @id | 0..1 | The criteria applied to create the dataset in which the frequency was measured | SEPIO:0000255 | PopulationAlleleFrequencyStatement |
| 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 | allele | alleleFrequency | population | alleleCount | alleleNumber | individualCount | homozygousAlleleIndividualCount | heterozygousAlleleIndividualCount | hemizygousAlleleIndividualCount | medianCoverage | ascertainment |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
This allele is thought to account for between 2% and 10% of patients with Malignant hyperthermia. |
||||||||||||||||
|
105 |
121336 |
(ExAC ascertainment method) | ||||||||||||||
|
32 |
4076 |
(LMM Hearing Loss) | ||||||||||||||
|
9 |
66740 |
(ExAC ascertainment method) | ||||||||||||||
| (Non-Finnish European) |
1198 |
7344 |
3672 |
113 |
972 |
(GENIUS T2D Cases) | ||||||||||
| (Non-Finnish European) |
936 |
5870 |
2935 |
77 |
782 |
(GENIUS T2D Controls) | ||||||||||
|
0.02 |
(South Asian) |
31 |
16512 |
(ExAC ascertainment method) | ||||||||||||
|
0.02 |
(African/African American) |
27 |
1384 |
(ExAC ascertainment method) | ||||||||||||
|
1.499e-05 |
(Non-Finnish European) |
66706 |
1 |
0 |
(ExAC ascertainment method) | |||||||||||
|
8.24e-06 |
(Combined) |
121366 |
1 |
0 |
(ExAC ascertainment method) | |||||||||||
|
0.07771 |
(Finnish) |
6614 |
514 |
21 |
100.0 |
(ExAC ascertainment method) | ||||||||||
|
0.0 |
(Combined) |
0 |
0 |
11.0 |
(ExAC ascertainment method) | |||||||||||
|
0.0 |
(Combined) |
0 |
11.0 |
(ExAC ascertainment method) | ||||||||||||
|
0.0 |
(Combined) |
0 |
57.0 |
(ExAC ascertainment method) | ||||||||||||
|
0.05591 |
(Combined) |
6732 |
120402 |
223 |
(ExAC ascertainment method) | |||||||||||
|
0.04538 |
(Combined) |
5507 |
121350 |
768 |
(ExAC ascertainment method) | |||||||||||
|
0.2917 |
(East Asian) |
2518 |
8632 |
405 |
(ExAC ascertainment method) | |||||||||||
|
0.0001158 |
(Combined) |
14 |
121100 |
0 |
(ExAC ascertainment method) | |||||||||||
|
0.0007 |
(Combined) |
89 |
121410 |
1 |
(ExAC ascertainment method) | |||||||||||
|
0.00625 |
(Combined) |
545 |
87696 |
1 |
206 |
(ExAC ascertainment method) | ||||||||||
|
2.4e-05 |
(Combined) |
3 |
120870 |
(ExAC ascertainment method) | ||||||||||||
|
1.5e-05 |
(Non-Finnish European) |
1 |
66564 |
0 |
(ExAC ascertainment method) |