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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 1.000 6 2005 2019
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2005 2019
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2005 2014
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.020 0.500 2 2005 2019
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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.060 0.833 6 2007 2017
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2007 2017
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.040 1.000 4 2007 2013
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: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2007 2013
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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2008 2018
dbSNP: rs11549465
rs11549465 		0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2008 2018
dbSNP: rs11549467
rs11549467 		0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2008 2018
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: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2012
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: 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