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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 19 | 49618017 | intron variant | G/A | snv | 7.7E-02 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 49618017 | intron variant | G/A | snv | 7.7E-02 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 49618017 | intron variant | G/A | snv | 7.7E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 49618017 | intron variant | G/A | snv | 7.7E-02 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 19 | 49618821 | intron variant | T/C | snv | 0.43 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 |