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 | 0.120 | 19 | 12899485 | missense variant | G/A | snv | 2.0E-04 | 6.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 7 | 1995 | 2014 | ||||||
|
1.000 | 0.120 | 19 | 12891895 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 9 | 1995 | 2014 | ||||||||
|
1.000 | 0.120 | 19 | 12892114 | splice acceptor variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12892172 | frameshift variant | TCAA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12893485 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.120 | 19 | 12896201 | splice acceptor variant | CAGGATC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12896213 | frameshift variant | -/TCGC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 19 | 12896294 | frameshift variant | -/CGGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12897400 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 12897429 | splice donor variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12897840 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 7 | 1995 | 2014 | ||||||||
|
1.000 | 0.120 | 19 | 12899541 | stop lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2000 | 2010 | ||||||||
|
0.882 | 0.160 | 19 | 12896243 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 12896243 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 12896243 | missense variant | G/C | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12897787 | frameshift variant | -/T | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
19 | 12904716 | non coding transcript exon variant | A/G | snv | 0.33 | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 12904716 | non coding transcript exon variant | A/G | snv | 0.33 | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 19 | 12899466 | splice acceptor variant | A/C;G | snv | 8.8E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2000 | 2019 | ||||||
|
1.000 | 0.120 | 19 | 12893543 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2000 | 2015 | |||||||
|
19 | 12891749 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 12910545 | intron variant | G/A;C;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 12910545 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.120 | 19 | 12897788 | missense variant | G/C | snv | 1.2E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 1995 | 2014 | ||||||
|
19 | 12891570 | missense variant | T/C;G | snv | 3.4E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |