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: 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: 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: 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: 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: rs1867787
rs1867787 		1.000 0.120 2 46298252 intron variant G/C;T 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: rs4953340
rs4953340 		1.000 0.120 2 46320925 intron variant C/A;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: 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: rs6715787
rs6715787 		0.851 0.200 2 46349033 intron variant C/G;T snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6715787
rs6715787 		0.851 0.200 2 46349033 intron variant C/G;T snv
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs6715787
rs6715787 		0.851 0.200 2 46349033 intron variant C/G;T snv
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6715787
rs6715787 		0.851 0.200 2 46349033 intron variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
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