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 | 0.120 | 9 | 69072622 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.120 | 9 | 69072622 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.120 | 9 | 69065016 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 9 | 69065016 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 9 | 69072686 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.120 | 9 | 69035785 | start lost | G/A;T | snv | 9.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 9 | 69064936 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 69035936 | frameshift variant | C/-;CC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 69072646 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 9 | 69053247 | protein altering variant | ATGTCT/TACACCTTGAGGACA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 69046200 | intron variant | G/A | snv | 0.24 |
|
Nervous System Diseases; Mental Disorders | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 9 | 69082287 | intron variant | T/A | snv | 8.3E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 9 | 69071560 | intron variant | G/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
9 | 69084300 | intron variant | C/T | snv | 0.61 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2018 | 2018 |