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
|
https://www.w3.org/2000/01/rdf-schema#label |
rs4880
|
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
|