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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.060 | 0.833 | 6 | 2005 | 2016 | ||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Endocrine System Diseases | 0.050 | 1.000 | 5 | 2013 | 2019 | ||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2004 | 2018 | ||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Nutritional and Metabolic Diseases | 0.030 | 0.667 | 3 | 2007 | 2017 | ||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Musculoskeletal Diseases | 0.020 | < 0.001 | 2 | 2013 | 2016 | ||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2007 | 2018 | ||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | < 0.001 | 2 | 2007 | 2012 | ||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2007 | 2018 | ||||||
|
0.925 | 0.080 | 14 | 80211468 | missense variant | C/T | snv | 1.4E-05 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 14 | 80211468 | missense variant | C/T | snv | 1.4E-05 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.200 | 14 | 80205936 | intron variant | C/T | snv | 0.51 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.200 | 14 | 80205936 | intron variant | C/T | snv | 0.51 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.120 | 14 | 80205865 | intron variant | T/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 14 | 80205865 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.200 | 14 | 80204392 | intron variant | A/C;G | snv | 0.51 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.200 | 14 | 80204392 | intron variant | A/C;G | snv | 0.51 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |