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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||
|
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 | |||||||
|
1.000 | 0.040 | 14 | 61736744 | intron variant | C/T | snv | 0.67 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |