Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:alleleChange |
deletion
|
| gptkbp:alsoKnownAs |
gptkb:CCR5-Δ32
|
| gptkbp:dbSNPID |
gptkb:rs113488022
|
| gptkbp:deletionLength |
32 bp
|
| gptkbp:frequencyInAfricanPopulations |
rare
|
| gptkbp:frequencyInEastAsianPopulations |
rare
|
| gptkbp:frequencyInEuropeanPopulations |
~10%
|
| gptkbp:hasAllele |
deletion
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs113488022
|
| gptkbp:locatedOnChromosome |
gptkb:CCR5
3 3p21.31 |
| gptkbp:referenceAllele |
C
|
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:significance |
associated with delayed progression to AIDS
confers resistance to HIV-1 infection |
| gptkbp:bfsParent |
gptkb:BRAF_V600E
|
| gptkbp:bfsLayer |
6
|