ABCG8, ATP binding cassette subfamily G member 8, 64241
N. diseases: 116; N. variants: 35
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 43831834 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Digestive System Diseases | 0.800 | 1.000 | 17 | 2007 | 2018 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Digestive System Diseases | 0.800 | 1.000 | 11 | 2007 | 2018 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 4 | 2007 | 2019 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2004 | 2008 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2009 | 2010 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2008 | 2009 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |