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: 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: 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: rs1868092
rs1868092
1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34
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: 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: 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: rs4953348
rs4953348
1.000 0.120 2 46331293 intron variant A/G snv 0.42
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4953348
rs4953348
1.000 0.120 2 46331293 intron variant A/G snv 0.42
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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
Erythrocytosis due to low atmospheric pressure
Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
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
dbSNP: rs17039192
rs17039192
0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
Musculoskeletal Diseases 0.010 < 0.001 1 2012 2012
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: 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: rs4953354
rs4953354
0.827 0.120 2 46348249 intron variant A/G snv 0.22
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.010 1.000 1 2014 2014
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