Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:alsoKnownAs |
HbS mutation
|
| gptkbp:aminoAcidChange |
Glu6Val
|
| gptkbp:associatedWith |
gptkb:sickle_cell_anemia
|
| gptkbp:dbSNP_ID |
gptkb:rs33939927
|
| gptkbp:foundInPopulation |
African descent
|
| gptkbp:hasAllele |
T
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs33939927
|
| gptkbp:locatedIn |
gptkb:HBB_gene
|
| gptkbp:locatedOnChromosome |
11
|
| gptkbp:mutationAssociatedWith |
missense
|
| gptkbp:position |
chr11:5227002
|
| gptkbp:referenceAllele |
A
|
| gptkbp:significance |
pathogenic
|
| gptkbp:bfsParent |
gptkb:LRRK2_gene
|
| gptkbp:bfsLayer |
8
|