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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 89213735 | 3 prime UTR variant | G/A | snv | 0.11 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.120 | 10 | 89243170 | intron variant | C/T | snv | 0.37 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 10 | 89243170 | intron variant | C/T | snv | 0.37 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 10 | 89228242 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
0.882 | 0.080 | 10 | 89246097 | intron variant | C/T | snv | 0.38 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 10 | 89246097 | intron variant | C/T | snv | 0.38 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 10 | 89225233 | splice region variant | G/A;C;T | snv | 0.29; 8.0E-06; 4.0E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 10 | 89392836 | intron variant | G/A | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
10 | 89387005 | intron variant | A/G | snv | 0.96 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 10 | 89215021 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||
|
0.925 | 0.080 | 10 | 89215021 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||
|
0.925 | 0.080 | 10 | 89215021 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||
|
0.882 | 0.120 | 10 | 89215938 | missense variant | C/G | snv | 4.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 89215938 | missense variant | C/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 89215938 | missense variant | C/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2017 | 2019 |