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 | 0.200 | X | 43731325 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | X | 43731325 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | X | 43655101 | 5 prime UTR variant | AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC/-;AGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC | delins | 1.3E-02 |
|
0.700 | 0 | ||||||||||||
|
1.000 | X | 43655101 | 5 prime UTR variant | AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC/-;AGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC | delins | 1.3E-02 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | X | 43731695 | missense variant | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | X | 43731784 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | X | 43731344 | frameshift variant | -/T | ins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | X | 43683572 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Mental Disorders | 0.030 | 1.000 | 3 | 2009 | 2016 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | X | 43678769 | intron variant | A/G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | X | 43744144 | synonymous variant | T/C | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | X | 43744144 | synonymous variant | T/C | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | X | 43740274 | intron variant | T/C | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | X | 43745594 | 3 prime UTR variant | A/G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | X | 43745594 | 3 prime UTR variant | A/G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 |