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: 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: rs10873142
rs10873142 		1.000 0.040 14 61736744 intron variant C/T snv 0.67
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract 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: 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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; 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: 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: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
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: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic 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: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
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: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2008 2008
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: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1456868
Disease: Diabetic foot ulcer
Diabetic foot ulcer 		Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2014 2014