rs11894252, EPAS1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.810 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.810 GeneticVariation GWASCAT Genome-wide association study identifies multiple risk loci for renal cell carcinoma. 28598434 2017
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.810 GeneticVariation GWASDB A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. 22010048 2012
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.810 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
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.810 GeneticVariation GWASDB 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
P wave duration (observable entity)
CUI: C0429021
Disease: P wave duration (observable entity)
0.700 GeneticVariation GWASCAT Fifteen Genetic Loci Associated With the Electrocardiographic P Wave. 28794112 2017
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