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: 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: 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: rs372272284
rs372272284 		2 46357720 intron variant A/G snv 1.5E-04
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2018 2018
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: 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: 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: rs1868092
rs1868092 		1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34
CUI: C1314664
Disease: Dipstick assessment of hemoglobin concentration
Dipstick assessment of hemoglobin concentration 		0.700 1.000 1 2010 2010
dbSNP: rs1868092
rs1868092 		1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1868092
rs1868092 		1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34
CUI: C0019029
Disease: Hemoglobin concentration result
Hemoglobin concentration result 		0.700 1.000 1 2010 2010
dbSNP: rs1868092
rs1868092 		1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34
CUI: C1318517
Disease: Finding of hemoglobin concentration
Finding of hemoglobin concentration 		0.700 1.000 1 2010 2010
dbSNP: rs6756667
rs6756667 		1.000 0.040 2 46352270 intron variant A/G snv 0.62
CUI: C0003123
Disease: Anorexia
Anorexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
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: 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: 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