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 		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: rs11125071
rs11125071
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4953353
rs4953353
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
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: 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: 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: 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
dbSNP: rs1867787
rs1867787
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: rs2034327
rs2034327
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: rs2044456
rs2044456
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: rs2346417
rs2346417
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: rs4952818
rs4952818
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: rs4953340
rs4953340
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: rs9973653
rs9973653
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: 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