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 | 0.080 | 7 | 103565295 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 103565279 | frameshift variant | -/GGAGAGTGGAAGGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 103523390 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 7 | 103635498 | missense variant | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 7 | 103503158 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 7 | 103636250 | missense variant | T/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 7 | 103490747 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 7 | 103630111 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 7 | 103917082 | frameshift variant | -/A | delins | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 7 | 103557992 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 103553659 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 7 | 103697970 | stop gained | G/T | snv |
|
0.700 | 1.000 | 9 | 2000 | 2015 | ||||||||||
|
1.000 | 7 | 103701000 | missense variant | C/A | snv |
|
0.700 | 1.000 | 9 | 2000 | 2015 | ||||||||||
|
0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 |
|
Mental Disorders | 0.860 | 0.857 | 7 | 2008 | 2019 | |||||||
|
1.000 | 0.080 | 7 | 103749507 | splice region variant | A/G | snv | 0.49 | 0.50 |
|
Nervous System Diseases; Mental Disorders | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||||
|
1.000 | 0.040 | 7 | 103886922 | intron variant | C/A;T | snv |
|
Otorhinolaryngologic Diseases | 0.810 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.120 | 7 | 103610714 | missense variant | G/A;C;T | snv | 1.2E-05; 0.12 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 7 | 103545430 | intron variant | C/A | snv | 0.32 |
|
Mental Disorders | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1.000 | 0.040 | 7 | 103936441 | intron variant | T/C;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 7 | 103989335 | missense variant | G/A;C | snv | 5.0E-06; 5.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 7 | 103545430 | intron variant | C/A | snv | 0.32 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 7 | 103610714 | missense variant | G/A;C;T | snv | 1.2E-05; 0.12 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 7 | 103813122 | intron variant | T/C | snv | 0.21 |
|
Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 7 | 103610714 | missense variant | G/A;C;T | snv | 1.2E-05; 0.12 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 |