Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:aminoAcidChange |
Cys130Arg
T>C |
| gptkbp:associatedWith |
gptkb:Alzheimer's_disease
gptkb:APOE_ε4_allele |
| gptkbp:chromosomalPosition |
19q13.32
|
| gptkbp:clinVarID |
gptkb:RCV000018084
|
| gptkbp:dbSNPID |
gptkb:rs429358
|
| gptkbp:genomicBuild |
gptkb:GRCh37
gptkb:GRCh38 |
| gptkbp:genomicPositionGRCh37 |
chr19:45411941
|
| gptkbp:genomicPositionGRCh38 |
chr19:44908684
|
| gptkbp:hasAllele |
C
|
| gptkbp:HGVS |
NM_000041.3:c.388T>C
|
| gptkbp:locatedOnChromosome |
gptkb:APOE
19 |
| gptkbp:minorAlleleFrequency |
varies by population
|
| gptkbp:referenceAllele |
T
|
| gptkbp:significance |
gptkb:risk_factor
|
| gptkbp:bfsParent |
gptkb:APOE-e3
gptkb:APOE_gene |
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs429358
|