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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 61717464 | intron variant | A/G | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 61711103 | intron variant | G/A | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 61740887 | missense variant | A/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 14 | 61736744 | intron variant | C/T | snv | 0.67 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 14 | 61738213 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.080 | 14 | 61736905 | missense variant | G/A | snv | 2.2E-03 | 9.1E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 14 | 61736905 | missense variant | G/A | snv | 2.2E-03 | 9.1E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 14 | 61730230 | intron variant | T/C | snv | 0.74 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 14 | 61738090 | missense variant | C/T | snv | 3.8E-03 | 4.0E-03 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.882 | 0.080 | 14 | 61738090 | missense variant | C/T | snv | 3.8E-03 | 4.0E-03 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.080 | 14 | 61738090 | missense variant | C/T | snv | 3.8E-03 | 4.0E-03 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.882 | 0.080 | 14 | 61738090 | missense variant | C/T | snv | 3.8E-03 | 4.0E-03 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.080 | 14 | 61740832 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 14 | 61740832 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 14 | 61739830 | intron variant | C/A | snv | 0.60 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 14 | 61739830 | intron variant | C/A | snv | 0.60 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 |
|
Neoplasms | 0.040 | 0.750 | 4 | 2007 | 2020 | |||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |