Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:SNP
|
gptkbp:aminoAcidChange |
A/G
Thr111Ala |
gptkbp:ancestralAllele |
G
|
gptkbp:associatedWith |
lighter skin color
|
gptkbp:chromosomalPosition |
15q21.1
|
gptkbp:commonIn |
European
|
gptkbp:dbSNPID |
gptkb:rs1426654
|
gptkbp:derivedAllele |
A
|
gptkbp:effectOnTrait |
skin pigmentation
|
gptkbp:hasAllele |
G
A |
https://www.w3.org/2000/01/rdf-schema#label |
rs1426654
|
gptkbp:locatedOnChromosome |
gptkb:SLC24A5
gptkb:chromosome_15 |
gptkbp:rareInPopulation |
African
East Asian |
gptkbp:referenceGenome |
gptkb:GRCh38
|
gptkbp:significance |
benign
|
gptkbp:bfsParent |
gptkb:SLC24A5
|
gptkbp:bfsLayer |
8
|