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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 17 | 68307626 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 68307626 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
17 | 68450932 | intron variant | T/C | snv | 0.68 | 0.68 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
17 | 68450932 | intron variant | T/C | snv | 0.68 | 0.68 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Nervous System Diseases | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
17 | 68432290 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 68432290 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 17 | 68428200 | intron variant | G/C | snv | 0.24 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 17 | 68267123 | 3 prime UTR variant | C/A;T | snv | 7.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 17 | 68267123 | 3 prime UTR variant | C/A;T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
17 | 68273941 | missense variant | A/G | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
17 | 68273941 | missense variant | A/G | snv | 0.12 | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
17 | 68290054 | intron variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 17 | 68420363 | missense variant | T/C | snv | 2.5E-03 | 2.4E-03 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.040 | 17 | 68420363 | missense variant | T/C | snv | 2.5E-03 | 2.4E-03 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
17 | 68431555 | intron variant | T/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 68447468 | intron variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |