Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:A_allele_association |
brown eyes
|
| gptkbp:associatedWith |
eye color
|
| gptkbp:chromosomalPosition |
gptkb:15q13.1
|
| gptkbp:dbSNP_ID |
gptkb:rs12913832
|
| gptkbp:discoveredIn |
human genome
|
| gptkbp:effect |
regulatory variant
|
| gptkbp:G_allele_association |
blue eyes
|
| gptkbp:hasAllele |
G
A |
| gptkbp:hasPhenotype |
iris pigmentation
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs12913832
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
gptkb:HERC2 |
| gptkbp:majorAllele |
A
|
| gptkbp:minorAllele |
G
|
| gptkbp:populationFrequency |
varies by population
|
| gptkbp:position_GRCh38 |
28365618
|
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:regulates |
OCA2 expression
|
| gptkbp:significance |
benign
|
| gptkbp:bfsParent |
gptkb:Herc2
|
| gptkbp:bfsLayer |
8
|