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 | 0.040 | 20 | 46057189 | missense variant | C/A;T | snv | 5.2E-05 |
|
0.800 | 1.000 | 3 | 2014 | 2015 | ||||||||
|
1.000 | 20 | 46043294 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 20 | 46045891 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 20 | 46041337 | missense variant | T/A | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.080 | 20 | 46056217 | missense variant | G/A;T | snv | 3.3E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2014 | 2015 | ||||||||
|
20 | 46021679 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 20 | 46052214 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 20 | 46052214 | intron variant | G/A | snv | 0.20 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
20 | 46024910 | intron variant | G/A | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 20 | 46041441 | missense variant | T/C;G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46041427 | stop gained | G/A;C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46040466 | frameshift variant | TG/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46041453 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46057528 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46035536 | splice donor variant | G/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46037345 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46043213 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46051731 | inframe deletion | TCC/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 20 | 46043638 | missense variant | A/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 20 | 46053600 | missense variant | G/A;T | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 20 | 46021886 | missense variant | G/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 20 | 46056217 | missense variant | G/A;T | snv | 3.3E-03; 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 20 | 46056217 | missense variant | G/A;T | snv | 3.3E-03; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 20 | 46057189 | missense variant | C/A;T | snv | 5.2E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |