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 | 16 | 71576238 | frameshift variant | -/A | 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 | 16 | 71576189 | frameshift variant | -/G | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 16 | 71569932 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
16 | 71578986 | upstream gene variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 16 | 71575920 | splice donor 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 | 16 | 71570267 | splice donor variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
16 | 71578666 | upstream gene variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 71578443 | upstream gene variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 16 | 71569853 | splice donor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 71569894 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
16 | 71570009 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 71566574 | 3 prime UTR variant | C/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 16 | 71576323 | synonymous variant | C/G;T | snv | 1.6E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.120 | 16 | 71568211 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||
|
1.000 | 0.120 | 16 | 71571659 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 16 | 71576180 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 16 | 71568212 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2017 | ||||||
|
1.000 | 0.120 | 16 | 71568260 | stop gained | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 1992 | 2006 | |||||||
|
1.000 | 0.120 | 16 | 71576247 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 |