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: rs137853036
rs137853036 		0.925 0.040 2 46380281 missense variant G/A;T snv
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		Hemic and Lymphatic Diseases 0.800 1.000 5 2008 2012
dbSNP: rs137853037
rs137853037 		1.000 0.040 2 46380275 missense variant A/G snv
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		Hemic and Lymphatic Diseases 0.800 1.000 5 2008 2012
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
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: 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
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: 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
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