Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:allele_frequency_(African) |
~0.19
|
| gptkbp:allele_frequency_(East_Asian) |
~0.08
|
| gptkbp:allele_frequency_(European) |
~0.15
|
| gptkbp:allele_frequency_(global) |
~0.14
|
| gptkbp:alternate_allele |
C
|
| gptkbp:aminoAcidChange |
Cysteine at position 112
|
| gptkbp:APOE_isoform |
gptkb:APOE_ε2
gptkb:APOE_ε3 |
| gptkbp:associatedWith |
gptkb:Alzheimer's_disease
gptkb:cardiovascular_disease |
| gptkbp:dbSNP_ID |
gptkb:rs429358
|
| gptkbp:gene |
gptkb:APOE
|
| gptkbp:HGVS_nomenclature |
NM_000041.3:c.388T>C
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
|
| gptkbp:position_(GRCh38) |
44908684
|
| gptkbp:protein_change |
p.Cys112Arg
|
| gptkbp:reference_allele |
T
|
| gptkbp:related_phenotype |
cholesterol levels
|
| gptkbp:significance |
Alzheimer's disease risk variant (in combination with rs7412)
|
| gptkbp:bfsParent |
gptkb:APOE_ε3_allele
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs429358 (Cys112)
|