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 | 0.040 | 9 | 128632261 | inframe deletion | ACCAGCTGG/-;ACCAGCTGGACCAGCTGG | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 128607988 | missense variant | C/G | snv | 5.7E-04 | 5.4E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 9 | 128632218 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 128611792 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 128604371 | missense variant | C/T | snv | 4.0E-05 | 4.2E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 9 | 128584312 | missense variant | C/T | snv | 3.2E-05 | 3.5E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 9 | 128632307 | missense variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 9 | 128632483 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 128633773 | frameshift variant | AGGTCCTCAGCTTCCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 128633958 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 9 | 128568850 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 9 | 128611753 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 9 | 128627413 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 9 | 128633813 | frameshift variant | TG/- | delins | 3.5E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 9 | 128627423 | inframe deletion | GAG/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 9 | 128632261 | inframe deletion | ACCAGCTGG/-;ACCAGCTGGACCAGCTGG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 9 | 128632261 | inframe deletion | ACCAGCTGG/-;ACCAGCTGGACCAGCTGG | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 128633875 | stop gained | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
9 | 128580928 | missense variant | G/A | snv | 5.2E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 128632280 | protein altering variant | -/GCATGC | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 9 | 128566833 | synonymous variant | A/G | snv | 2.0E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
9 | 128582740 | missense variant | G/A;C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 9 | 128566833 | synonymous variant | A/G | snv | 2.0E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |