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: 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: 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 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: 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 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 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 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 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 		C 0.800 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579 2012
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579 2012
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
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: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		0.800 GeneticVariation UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4 		A 0.800 CausalMutation CLINVAR