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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 123347875 | frameshift variant | -/G | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 22 | 1992 | 2017 | ||||||||||
|
3 | 123347875 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1992 | 2017 | ||||||||||
|
3 | 123335923 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.840 | 0.875 | 8 | 2010 | 2018 | |||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
3 | 123365694 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 123291354 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 123325321 | splice donor variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 123350211 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 123386796 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 123330888 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 22 | 1992 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 123319754 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2001 | 2014 | ||||||||
|
3 | 123440099 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 123440099 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 123349897 | intron variant | C/T | snv | 0.20 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2016 | 2016 |