HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
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: rs10138032
rs10138032 		14 61717464 intron variant A/G snv 8.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.010 1.000 1 2007 2007
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.010 1.000 1 2007 2007
dbSNP: rs7156573
rs7156573 		14 61711103 intron variant G/A snv 0.94
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2012 2012
dbSNP: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2013 2013
dbSNP: rs2057482
rs2057482 		0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2014 2017
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2057482
rs2057482 		0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs41508050
rs41508050 		0.882 0.080 14 61738090 missense variant C/T snv 3.8E-03 4.0E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1430452530
rs1430452530 		0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2057482
rs2057482 		0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0751075
Disease: Cancer of Digestive System
Cancer of Digestive System 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0751075
Disease: Cancer of Digestive System
Cancer of Digestive System 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2057482
rs2057482 		0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2057482
rs2057482 		0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2301113
rs2301113 		0.925 0.120 14 61739830 intron variant C/A snv 0.60
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015