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: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma
0.830 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma
0.810 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
dbSNP: rs2121266
rs2121266
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007134
Disease:
Renal Cell Carcinoma
C 0.800 GeneticVariation GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
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: rs6756667
rs6756667
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0003123
Disease:
Anorexia
0.010 GeneticVariation BEFREE However, only dominant, overdominant, and log-additive models of <i>EPAS1</i> rs6756667 showed decreased risk of HA appetite loss in the crude and adjusted analysis. 30778304 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: rs12614710
rs12614710
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Subsequent sequencing of network hub genes within a subset of samples from the Transdisciplinary Research in Cancer of the Lung-International Lung Cancer Consortium (TRICL-ILCCO) consortium revealed a SNP (rs12614710) in EPAS1 associated with NSCLC that reached genome-wide significance (OR = 1.50; 95% CI: 1.31-1.72; p = 7.75 × 10<sup>-9</sup>). 29859855 2018
dbSNP: rs17039192
rs17039192
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our results indicated a boardline connection between HIF-1 rs11549467 and BC risk (AG compared with GG: OR = 1.61, 95% CI = 1.05-2.49, <i>P</i>=0.03; AG + AA compared with GG: OR = 1.64, 95% CI = 1.08-2.51, <i>P</i>=0.02; AG compared with GG + AA: OR = 1.61, 95% CI = 1.04-2.48, <i>P</i>=0.03; OR = 1.64, 95% CI = 1.09-2.45, <i>P</i>=0.02), while HIF-2 rs17039192 had no influence on breast cancer. 30135144 2018
dbSNP: rs17039192
rs17039192
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our results indicated a boardline connection between HIF-1 rs11549467 and BC risk (AG compared with GG: OR = 1.61, 95% CI = 1.05-2.49, <i>P</i>=0.03; AG + AA compared with GG: OR = 1.64, 95% CI = 1.08-2.51, <i>P</i>=0.02; AG compared with GG + AA: OR = 1.61, 95% CI = 1.04-2.48, <i>P</i>=0.03; OR = 1.64, 95% CI = 1.09-2.45, <i>P</i>=0.02), while HIF-2 rs17039192 had no influence on breast cancer. 30135144 2018
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: 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: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE HIF2A rs13419896 and VEGFA rs833061 were significantly related to lung cancer risk, with possible interaction between polymorphisms and cigarette smoking. 27981753 2017
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE HIF2A rs13419896 and VEGFA rs833061 were significantly related to lung cancer risk, with possible interaction between polymorphisms and cigarette smoking. 27981753 2017
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE HIF2A rs13419896 and VEGFA rs833061 were significantly related to lung cancer risk, with possible interaction between polymorphisms and cigarette smoking. 27981753 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 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
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 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
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0524909
Disease:
Hepatitis B, Chronic
0.010 GeneticVariation BEFREE The aim of this study is to determine whether HIF-2a rs13419896 and rs6715787 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to chronic hepatitis B (CHB), liver cirrhosis (LC), or hepatocellular carcinoma (HCC). 27384772 2016
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0023890
Disease:
Liver Cirrhosis
0.010 GeneticVariation BEFREE The HIF-2a rs13419896 polymorphism is associated with an increased risk of CHB and LC in the Guangxi Chinese population, especially in females and in the non-alcohol-drinking population, while the HIF-2a gene rs6715787 polymorphism is associated with a decreased risk of LC in the Guangxi Zhuang population. 27384772 2016
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The aim of this study is to determine whether HIF-2a rs13419896 and rs6715787 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to chronic hepatitis B (CHB), liver cirrhosis (LC), or hepatocellular carcinoma (HCC). 27384772 2016
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0151517
Disease:
Complete atrioventricular block
0.010 GeneticVariation BEFREE The HIF-2a rs13419896 polymorphism is associated with an increased risk of CHB and LC in the Guangxi Chinese population, especially in females and in the non-alcohol-drinking population, while the HIF-2a gene rs6715787 polymorphism is associated with a decreased risk of LC in the Guangxi Zhuang population. 27384772 2016
dbSNP: rs4953348
rs4953348
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The A allele of rs4953348 is a protective factor for AMS through HR and Vm-BA compensation, while the G allele may contribute to hypoxic pulmonary hypertension in AMS. 27982053 2016