EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4953345
rs4953345 		1.000 0.120 2 46325462 intron variant T/A;C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4953353
rs4953353 		2 46340137 intron variant G/A;C;T snv
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs9973653
rs9973653 		1.000 0.120 2 46320970 intron variant G/T snv 0.42
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7579899
rs7579899 		0.925 0.120 2 46310465 intron variant A/G snv 0.52
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2011 2016
dbSNP: rs4953354
rs4953354 		0.827 0.120 2 46348249 intron variant A/G snv 0.22
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2015
dbSNP: rs11894252
rs11894252 		0.925 0.120 2 46306237 intron variant T/A;C;G snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12614710
rs12614710 		1.000 0.080 2 46337952 intron variant T/G snv 0.69
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12617313
rs12617313 		0.925 0.120 2 46332637 intron variant A/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12617313
rs12617313 		0.925 0.120 2 46332637 intron variant A/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1267580705
rs1267580705 		0.925 0.240 2 46360680 missense variant G/A snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1267580705
rs1267580705 		0.925 0.240 2 46360680 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1267580705
rs1267580705 		0.925 0.240 2 46360680 missense variant G/A snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1267580705
rs1267580705 		0.925 0.240 2 46360680 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13419896
rs13419896 		0.776 0.240 2 46329206 intron variant G/A snv 0.10
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137853036
rs137853036 		0.925 0.040 2 46380281 missense variant G/A;T snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs150797491
rs150797491 		2 46376625 missense variant T/A snv 4.0E-03 4.5E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs17039192
rs17039192 		0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17039192
rs17039192 		0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012