PopulationAlleleFrequencyStatement

A statement that describes the observed frequency of an allele as determined in a defined group of individuals (typically a representative sampling that serves as a proxy for some larger population of individuals).

SEPIO:0000227
Descended from Statement

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
population @id 0..1 Ancestry of population or group over which the frequency was measured SEPIO:0000277 PopulationAlleleFrequencyStatement
ascertainment @id 0..1 The criteria applied to create the dataset in which the frequency was measured SEPIO:0000255 PopulationAlleleFrequencyStatement
alleleFrequency number 0..1 Frequency of the named allele in the population SEPIO:0000297 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
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 population ascertainment alleleFrequency alleleCount alleleNumber individualCount homozygousAlleleIndividualCount heterozygousAlleleIndividualCount hemizygousAlleleIndividualCount medianCoverage

CGEX:AllFreq032

This allele is thought to account for between 2% and 10% of patients with Malignant hyperthermia.

CAR:CA024311

CGEX:AllFreq028

CAR:CA253316

SEPIO:0000332

(ExAC ascertainment method)

105

121336

CGEX:AllFreq029

CGEX:UsrLabl001

CAR:CA253316

CGEX:Ascrt0001

(LMM Hearing Loss)

32

4076

CGEX:AllFreq031

CAR:CA024311

SEPIO:0000332

(ExAC ascertainment method)

9

66740

CGEX:AllFreq034

CGEX:UsrLabl002

CAR:CA123287

GNOMAD:nfe

(Non-Finnish European)

CGEX:Ascrt0002

(GENIUS T2D Cases)

1198

7344

3672

113

972

CGEX:AllFreq035

CGEX:UsrLabl003

CAR:CA123287

GNOMAD:nfe

(Non-Finnish European)

CGEX:Ascrt0003

(GENIUS T2D Controls)

936

5870

2935

77

782

CGEX:AllFreq037

CAR:CA013536

GNOMAD:sas

(South Asian)

SEPIO:0000332

(ExAC ascertainment method)

0.02

31

16512

CGEX:AllFreq038

CAR:CA090950

GNOMAD:afr

(African/African American)

SEPIO:0000332

(ExAC ascertainment method)

0.02

27

1384

CGEX:AllFreq051

CAR:CA011797

GNOMAD:nfe

(Non-Finnish European)

SEPIO:0000332

(ExAC ascertainment method)

1.499e-05

66706

1

0

CGEX:AllFreq052

CAR:CA011797

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

8.24e-06

121366

1

0

CGEX:AllFreq053

CAR:CA011797

GNOMAD:fin

(Finnish)

SEPIO:0000332

(ExAC ascertainment method)

0.07771

6614

514

21

100.0

CGEX:AllFreq054

CAR:CA273141

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.0

0

0

11.0

CGEX:AllFreq082

CAR:CA090919

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.0

0

11.0

CGEX:AllFreq101

CAR:CA280055

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.0

0

57.0

CGEX:AllFreq153

CAR:CA090891

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.05591

6732

120402

223

CGEX:AllFreq154

CAR:CA134997

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.04538

5507

121350

768

CGEX:AllFreq155

CAR:CA134997

GNOMAD:eas

(East Asian)

SEPIO:0000332

(ExAC ascertainment method)

0.2917

2518

8632

405

CGEX:AllFreq157

CAR:CA501229

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.0001158

14

121100

0

CGEX:AllFreq158

CAR:CA017597

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.0007

89

121410

1

CGEX:AllFreq162

CAR:CA090926

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

0.00625

545

87696

1

206

CGEX:AllFreq166

CAR:CA501230

SEPIO-CG:98001

(Combined)

SEPIO:0000332

(ExAC ascertainment method)

2.4e-05

3

120870

CGEX:AllFreq370

CAR:CA022880

GNOMAD:nfe

(Non-Finnish European)

SEPIO:0000332

(ExAC ascertainment method)

1.5e-05

1

66564

0