Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030821
rs5030821
VHL
0.010 GeneticVariation BEFREE VHL-R167Q binds elongin C and elongin B with considerably less avidity than wild-type VHL does but retains residual capacity to generate a VHL-elongin C-elongin B complex, downregulate HIF2α, and suppress tumorigenesis</span>, which could be rescued by increase of VHL-R167Q levels. 24755468

2014