rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Renal Cell Carcinoma
0.830
GeneticVariation
GWASCAT
Sex specific associations in genome wide association analysis of renal cell carcinoma.
31231134
2019
rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Renal Cell Carcinoma
0.830
GeneticVariation
GWASCAT
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
28598434
2017
rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Renal Cell Carcinoma
0.830
GeneticVariation
BEFREE
No significant association between rs7579899 or rs7105934 and RCC risk was observed.
22131124
2012
rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs7579899
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs11894252
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Renal Cell Carcinoma
0.810
GeneticVariation
GWASCAT
Sex specific associations in genome wide association analysis of renal cell carcinoma.
31231134
2019
rs11894252
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Renal Cell Carcinoma
0.810
GeneticVariation
GWASCAT
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
28598434
2017
rs11894252
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs11894252
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs11894252
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs2121266
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Renal Cell Carcinoma
C
0.800
GeneticVariation
GWASCAT
Sex specific associations in genome wide association analysis of renal cell carcinoma.
31231134
2019
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
Two new mutations in the HIF2A gene associated with erythrocytosis.
22367913
2012
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: familial erythrocytosis.
22274579
2012
rs137853037
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: familial erythrocytosis.
22274579
2012
rs137853037
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
Two new mutations in the HIF2A gene associated with erythrocytosis.
22367913
2012
rs2121266
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs137853037
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
18184961
2008
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
18378852
2008
rs137853037
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
18184961
2008
rs137853037
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
0.800
GeneticVariation
UNIPROT
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
18378852
2008
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
A
0.800
CausalMutation
CLINVAR