rs104893829, VHL

N. diseases: 4
Disease: Conventional (Clear Cell) Renal Cell Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
0.020 GeneticVariation BEFREE The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development. 28503092 2017
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
0.020 GeneticVariation BEFREE The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known. 23990666 2013