Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:affectsLipidMetabolism |
yes
|
| gptkbp:aminoAcidChange |
p.Arg158Cys
|
| gptkbp:associatedWith |
gptkb:type_III_hyperlipoproteinemia
lower risk of Alzheimer's disease |
| gptkbp:encodesProteinVariant |
gptkb:ApoE2
|
| gptkbp:frequency |
~8% in European populations
|
| gptkbp:hasNucleotideChange |
c.388T>C
|
| https://www.w3.org/2000/01/rdf-schema#label |
APOE ε2 allele
|
| gptkbp:isLessEfficientAt |
binding to LDL receptor
|
| gptkbp:locatedOn |
gptkb:chromosome_19
|
| gptkbp:rsID |
gptkb:rs7412
|
| gptkbp:variant |
gptkb:APOE_gene
|
| gptkbp:bfsParent |
gptkb:APOE_ε4_allele
|
| gptkbp:bfsLayer |
7
|