EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1267580705
rs1267580705
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.010 GeneticVariation BEFREE About one third of VHL mutations are missense point mutations, with R167Q being the most common VHL point mutation in hereditary VHL disease. 24755468 2014
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 GeneticVariation BEFREE The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06). 26551148 2016
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 GeneticVariation BEFREE No significant association between rs7579899 or rs7105934 and RCC risk was observed. 22131124 2012
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 GeneticVariation GWASCAT 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
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 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
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 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
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 GeneticVariation GWASCAT Genome-wide association study identifies multiple risk loci for renal cell carcinoma. 28598434 2017
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.830 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
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
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.810 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
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
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.810 GeneticVariation GWASCAT Genome-wide association study identifies multiple risk loci for renal cell carcinoma. 28598434 2017
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
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
dbSNP: rs2121266
rs2121266
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.800 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs2121266
rs2121266
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		C 0.800 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
dbSNP: rs10211665
rs10211665
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs11125068
rs11125068
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs11684885
rs11684885
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs11689011
rs11689011
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs17034950
rs17034950
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs1867784
rs1867784
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs1867785
rs1867785
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs1867787
rs1867787
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs2034327
rs2034327
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
dbSNP: rs2044456
rs2044456
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011