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: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.040 0.750 4 2007 2020
dbSNP: rs1430452530
rs1430452530 		0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2010 2016
dbSNP: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases 0.020 1.000 2 2013 2014
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: rs1430452530
rs1430452530 		0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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: rs574603732
rs574603732 		0.925 0.080 14 61740832 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs574603732
rs574603732 		0.925 0.080 14 61740832 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
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: rs763538721
rs763538721 		0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779702949
rs779702949 		14 61740887 missense variant A/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
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: rs142179458
rs142179458 		0.925 0.080 14 61736905 missense variant G/A snv 2.2E-03 9.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs142179458
rs142179458 		0.925 0.080 14 61736905 missense variant G/A snv 2.2E-03 9.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2012 2015
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2009 2017