ABCG5, ATP binding cassette subfamily G member 5, 64240
N. diseases: 108; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 43817116 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
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2 | 43817116 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 43815765 | intron variant | C/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 43815765 | intron variant | C/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
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 | |||||||||||
|
1.000 | 0.120 | 2 | 43823981 | missense variant | C/G;T | snv | 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 43824071 | missense variant | C/T | snv | 1.5E-04 | 8.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 43828248 | non coding transcript exon variant | C/T | snv | 7.9E-02 |
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0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
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2 | 43828248 | non coding transcript exon variant | C/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 43815648 | intron variant | G/A | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | |||||||
|
1.000 | 0.120 | 2 | 43823926 | missense variant | G/A;C | snv | 1.3E-04; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 4 | 2001 | 2004 | |||||||
|
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 |