Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:aminoAcidChange |
Valine to Alanine
|
| gptkbp:associatedWith |
gptkb:cardiovascular_disease
gptkb:diabetes cancer risk |
| gptkbp:chromosomalPosition |
6q25.3
|
| gptkbp:dbSNPID |
gptkb:rs4880
|
| gptkbp:effectOnProtein |
Val16Ala
|
| gptkbp:gene |
gptkb:SOD2
|
| gptkbp:hasAllele |
C
T |
| gptkbp:HGVSNucleotide |
c.47T>C
|
| gptkbp:HGVSProtein |
p.Val16Ala
|
| gptkbp:locatedOnChromosome |
gptkb:SOD2
6 |
| gptkbp:minorAlleleFrequency |
varies by population
|
| gptkbp:referenceSNPClusterID |
gptkb:rs4880
|
| gptkbp:significance |
associated with various diseases
|
| gptkbp:bfsParent |
gptkb:hsa:6647
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs4880
|