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 | 0.080 | 19 | 39248515 | missense variant | T/A;G | snv | 0.22 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 39247226 | missense variant | C/G | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 19 | 39247213 | missense variant | T/C | snv | 1.6E-03 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 39247213 | missense variant | T/C | snv | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 39248489 | missense variant | C/G | snv | 0.17 | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 39248489 | missense variant | C/G | snv | 0.17 | 0.21 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 |
|
Digestive System Diseases; Infections | 0.030 | 1.000 | 3 | 2017 | 2019 | ||||||
|
0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Digestive System Diseases; Infections | 0.100 | 1.000 | 18 | 2014 | 2019 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Digestive System Diseases; Infections | 0.060 | 1.000 | 6 | 2014 | 2017 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Infections; Immune System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Infections; Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
Digestive System Diseases; Infections | 0.100 | 0.969 | 196 | 2009 | 2019 |