​
Overview

This page provides comprehensive information about phenotypes, including genetic associations from GWAS studies, coding variant effects, and disease relationships. Phenotypes are categorized using standard ontologies and linked to their genetic determinants.

​
Associated Variant

This table shows variants associated with this phenotype through genome-wide association studies (GWAS).
ColumnDescription
StudyStudy identifier (click for study details)
PositionGenomic position of the lead variant (click to view region)
AllelesReference and alternate alleles (Ref>Alt format)
BetaEffect size of the association
DirectionDirection of effect (⬆️ for positive, ⬇️ for negative)
95% Confidence IntervalConfidence interval for the effect size
P-valueStatistical significance of the association
SourceSource of the association data
VersionVersion of the source data
The table is initially sorted by P-value in descending order, showing the most significant associations first.

​
Associated Coding Variant

This table shows coding variants associated with this phenotype and their abundance scores.
ColumnDescription
Coding VariantIdentifier for the coding variant (click for variant details)
Abundance ScoreFunctional abundance score for the variant
95% Confidence IntervalConfidence interval for the abundance score
Standard DeviationStandard deviation of the abundance score
Standard ErrorStandard error of the abundance score
ReplicatesValues from individual experimental replicates
SourceSource of the coding variant data (click for source details)
The table is initially sorted by Abundance Score in descending order, showing the highest scoring variants first.

​
Genomic Element

This table shows genomic elements assayed in this biosample (if term is associated with a biosample).
ColumnDescription
CoordinatesGenomic coordinates of the element (click to view region)
Element IDIdentifier for the genomic element
Element TypeType/category of the genomic element
Activity ScoreQuantitative activity score for the element
DatasetSource dataset identifier (click for dataset details)
SourceSource of the genomic element data
RelationshipType of relationship between phenotype and element
The table is initially sorted by Activity Score in descending order, showing the most active elements first.

​
Biosample Variant

This table shows variants with experimental effect evidence in this biosample.
ColumnDescription
VariantVariant identifier (SPDI format when available, click for variant details)
PositionGenomic position of the variant (click to view region)
AllelesReference and alternate alleles (Ref>Alt format)
log2FCLog2 fold change of the effect
PostProb EffectPosterior probability of the effect
95% CI95% confidence interval for the effect
MethodExperimental method used
LabelExperimental label or condition
DatasetSource dataset identifier (click for dataset details)
SourceSource of the variant effect data
The table is initially sorted by PostProb Effect in descending order, showing the variants with highest posterior probability first.