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: 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: 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: rs17039192
rs17039192
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0409959
Disease:
Osteoarthritis, Knee 		0.010 GeneticVariation BEFREE A large-scale replication study for the association of rs17039192 in HIF-2α with knee osteoarthritis. 22247019 2012
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: rs4953354
rs4953354
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0272139
Disease:
Erythrocytosis due to low atmospheric pressure 		0.020 GeneticVariation BEFREE Carriers of this EPAS1 haplotype (G-G-G, rs13419896, rs4953354, and rs1868092) may have a higher risk for HAPC. 25239027 2014
dbSNP: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0272139
Disease:
Erythrocytosis due to low atmospheric pressure 		0.010 GeneticVariation BEFREE Carriers of this EPAS1 haplotype (G-G-G, rs13419896, rs4953354, and rs1868092) may have a higher risk for HAPC. 25239027 2014
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: rs4953345
rs4953345
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		A 0.700 GeneticVariation GWASCAT Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer. 25826619 2015
dbSNP: rs372272284
rs372272284
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0518015
Disease:
Hemoglobin measurement 		G 0.700 GeneticVariation GWASCAT Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal. 30188897 2018
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: rs11689011
rs11689011
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0429021
Disease:
P wave duration (observable entity) 		T 0.700 GeneticVariation GWASCAT Fifteen Genetic Loci Associated With the Electrocardiographic P Wave. 28794112 2017
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0429021
Disease:
P wave duration (observable entity) 		T 0.700 GeneticVariation GWASCAT Fifteen Genetic Loci Associated With the Electrocardiographic P Wave. 28794112 2017
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0032461
Disease:
Polycythemia 		0.010 GeneticVariation BEFREE Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the patient and his daughter. 29172931 2017
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: 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: 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