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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 8 | 116863196 | stop gained | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 8 | 116863221 | frameshift variant | -/AG | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 8 | 116866668 | frameshift variant | GCTAGCC/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 8 | 116857375 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 8 | 116857361 | frameshift variant | -/CT | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 8 | 116847588 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 8 | 116848536 | intron variant | C/T | snv | 1.6E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 8 | 116852070 | missense variant | G/A | snv | 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.200 | 8 | 116854423 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.200 | 8 | 116854423 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |