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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 14 | 28768345 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 14 | 28767832 | missense variant | A/T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.240 | 14 | 28768345 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 14 | 28768100 | missense variant | G/A | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 14 | 28768138 | stop gained | A/T | snv |
|
0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
1.000 | 14 | 28768359 | frameshift variant | -/G | delins |
|
0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
1.000 | 14 | 28767840 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 15 | 1989 | 2017 | ||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 14 | 28767733 | frameshift variant | G/-;GG | delins |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 14 | 28767733 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
1.000 | 0.120 | 14 | 28767922 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 3 | 2010 | 2016 |