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: rs7579899
rs7579899
0.925 0.120 2 46310465 intron variant A/G snv 0.52
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.830 1.000 5 2011 2019
dbSNP: rs11894252
rs11894252
0.925 0.120 2 46306237 intron variant T/A;C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 4 2011 2019
dbSNP: rs7579899
rs7579899
0.925 0.120 2 46310465 intron variant A/G snv 0.52
Conventional (Clear Cell) Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2011 2016
dbSNP: rs2121266
rs2121266
1.000 0.120 2 46308785 intron variant C/A snv 0.61
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 2011 2019
dbSNP: rs4953354
rs4953354
0.827 0.120 2 46348249 intron variant A/G snv 0.22
Erythrocytosis due to low atmospheric pressure
Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2015
dbSNP: rs10211665
rs10211665
1.000 0.120 2 46298957 intron variant T/C snv 0.58
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: rs11125068
rs11125068
1.000 0.120 2 46300677 intron variant A/G snv 0.62
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: rs11125071
rs11125071
2 46327394 intron variant C/A;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs11684885
rs11684885
1.000 0.120 2 46306413 intron variant T/C;G 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 2011 2011
dbSNP: rs11689011
rs11689011
1.000 0.120 2 46314037 intron variant T/A;C;G snv
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
0.700 1.000 1 2017 2017
dbSNP: rs11689011
rs11689011
1.000 0.120 2 46314037 intron variant T/A;C;G 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 2011 2011
dbSNP: rs11894252
rs11894252
0.925 0.120 2 46306237 intron variant T/A;C;G snv
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
0.700 1.000 1 2017 2017
dbSNP: rs11894252
rs11894252
0.925 0.120 2 46306237 intron variant T/A;C;G snv
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
Conventional (Clear Cell) Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: rs17034950
rs17034950
1.000 0.120 2 46311655 intron variant G/A snv 0.25
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