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 | 13 | 103051290 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.925 | 0.040 | 13 | 103049340 | missense variant | G/A;T | snv | 1.0E-02 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 13 | 103052619 | splice donor variant | CTT/AAG | mnv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 13 | 103049423 | missense variant | G/A;T | snv | 5.3E-04; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 13 | 103049340 | missense variant | G/A;T | snv | 1.0E-02 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.882 | 0.080 | 13 | 103058487 | intron variant | T/C | snv | 0.41 |
|
Digestive System Diseases | 0.020 | 0.500 | 2 | 2009 | 2011 | |||||||
|
0.882 | 0.080 | 13 | 103058487 | intron variant | T/C | snv | 0.41 |
|
Digestive System Diseases | 0.020 | 0.500 | 2 | 2009 | 2011 | |||||||
|
0.925 | 0.040 | 13 | 103066068 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.040 | 13 | 103066068 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 13 | 103052694 | missense variant | A/C | snv | 0.85 | 0.89 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 13 | 103052700 | synonymous variant | G/A | snv | 1.9E-02 | 2.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 13 | 103065958 | missense variant | C/A;T | snv | 4.0E-06; 2.7E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 13 | 103049340 | missense variant | G/A;T | snv | 1.0E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 13 | 103058487 | intron variant | T/C | snv | 0.41 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |