Variants

Sequence variant

Short genomic variants (several base pairs).

Possible relationships:

sequence_variant -[correlate_with]-> gene (eQTL)

sequence_variant -[correlate_with]-> phenotype_or_disease (GWAS)

sequence_variant -[overlap/locate_in/downstream/upstream]- (any entities with coordinates)

Structural variant

Long genomic variants (several thousand base pairs)

Possible relationships:

structural_variant -[overlap/locate_in/downstream/upstream]- (any entities with coordinates)