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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 9 | 2010 | 2019 | |||||||||
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 5 | 2010 | 2019 | |||||||||
|
0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv |
|
0.800 | 1.000 | 4 | 2013 | 2019 | |||||||||
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2013 | |||||||||
|
0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-02 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.925 | 0.040 | 2 | 43846742 | non coding transcript exon variant | T/C | snv | 0.75 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 43877591 | missense variant | T/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2000 | 2004 | |||||||
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.710 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
2 | 43848344 | non coding transcript exon variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 2 | 43846742 | non coding transcript exon variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.925 | 0.040 | 2 | 43846742 | non coding transcript exon variant | T/C | snv | 0.75 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.925 | 0.040 | 2 | 43846742 | non coding transcript exon variant | T/C | snv | 0.75 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||||
|
2 | 43852171 | intron variant | C/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
2 | 43848344 | non coding transcript exon variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
2 | 43843754 | intron variant | A/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 43843754 | intron variant | A/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 43843754 | intron variant | A/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 43843754 | intron variant | A/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.080 | 2 | 43846517 | non coding transcript exon variant | T/C | snv | 7.9E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 2 | 43846517 | non coding transcript exon variant | T/C | snv | 7.9E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 2 | 43846517 | non coding transcript exon variant | T/C | snv | 7.9E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 |