rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
A
0.800
CausalMutation
CLINVAR
rs137853036
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
T
0.800
CausalMutation
CLINVAR
rs137853037
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Erythrocytosis, Familial, 4
G
0.800
CausalMutation
CLINVAR
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
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
rs1868092
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Hemoglobin concentration result
0.700
GeneticVariation
GWASDB
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.
20534544
2010
rs1868092
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Finding of hemoglobin concentration
0.700
GeneticVariation
GWASDB
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.
20534544
2010
rs1868092
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
Dipstick assessment of hemoglobin concentration
0.700
GeneticVariation
GWASDB
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.
20534544
2010
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
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
0.800
GeneticVariation
GWASDB
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
21131975
2011
rs10211665
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs11125068
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs11684885
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs11689011
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs17034950
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs1867784
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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
rs1867785
×
Entrez Id:
2034
Gene Symbol:
EPAS1
EPAS1
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