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: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2003 2003
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: 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: 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: rs41508050
rs41508050 		0.882 0.080 14 61738090 missense variant C/T snv 3.8E-03 4.0E-03
CUI: C0577698
Disease: Exercise-induced angina
Exercise-induced angina 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs41508050
rs41508050 		0.882 0.080 14 61738090 missense variant C/T snv 3.8E-03 4.0E-03
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2008
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2008
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: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2005 2009
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: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
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: rs1430452530
rs1430452530 		0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1430452530
rs1430452530 		0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs748620045
rs748620045 		1.000 0.040 14 61738213 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal 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: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2012
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2012
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012