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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||||
|
0.925 | 0.120 | 19 | 45669020 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 19 | 45669020 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.925 | 0.120 | 19 | 45669020 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 45669020 | intron variant | G/A | snv | 0.12 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
19 | 45669953 | intron variant | T/- | del | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 45674762 | missense variant | G/A | snv | 4.9E-04 | 4.6E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
19 | 45677718 | missense variant | A/G | snv | 1.4E-03 | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |