rs11894252, EPAS1

N. diseases: 3
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
0.010 GeneticVariation BEFREE Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011