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: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
A 0.800 CausalMutation CLINVAR
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
T 0.800 CausalMutation CLINVAR
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
G 0.800 CausalMutation CLINVAR
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
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: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0019029
Disease:
Hemoglobin concentration result
0.700 GeneticVariation GWASDB Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. 20534544 2010
dbSNP: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1318517
Disease:
Finding of hemoglobin concentration
0.700 GeneticVariation GWASDB Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. 20534544 2010
dbSNP: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1314664
Disease:
Dipstick assessment of hemoglobin concentration
0.700 GeneticVariation GWASDB Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. 20534544 2010
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 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
0.800 GeneticVariation GWASDB Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. 21131975 2011
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