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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.160 | 16 | 69714966 | missense variant | G/A;C | snv | 3.2E-02 | 2.6E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.160 | 16 | 69714966 | missense variant | G/A;C | snv | 3.2E-02 | 2.6E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Immune System Diseases; Nervous System Diseases | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2020 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2019 |