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: 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: 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: 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: 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
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: rs11549465
rs11549465
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.030 1.000 3 2013 2019
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
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2017
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: rs11549467
rs11549467
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.030 1.000 3 2012 2014
dbSNP: rs11549467
rs11549467
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2017
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: 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: 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: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2014 2014
dbSNP: rs11549465
rs11549465
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2014 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: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.020 1.000 2 2013 2019