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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.800 | 1.000 | 13 | 2009 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 31191410 | missense variant | G/A | snv |
|
0.800 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
1.000 | 16 | 31191089 | missense variant | G/A | snv |
|
0.800 | 1.000 | 5 | 2009 | 2016 | ||||||||||
|
0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 |
|
0.800 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 9 | 2009 | 2014 | ||||||||
|
16 | 31191070 | frameshift variant | G/-;GGGG | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 7 | 2009 | 2015 | ||||||||||
|
1.000 | 16 | 31191421 | missense variant | A/G | snv |
|
0.700 | 1.000 | 5 | 2009 | 2016 | ||||||||||
|
1.000 | 16 | 31185115 | missense variant | C/T | snv | 1.3E-05 |
|
0.700 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
0.925 | 0.080 | 16 | 31191429 | missense variant | G/C | snv |
|
0.700 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
0.827 | 0.080 | 16 | 31191431 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
1.000 | 16 | 31185145 | missense variant | C/T | snv | 1.4E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 31191408 | missense variant | C/G | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 16 | 31184986 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 16 | 31190961 | splice acceptor variant | A/- | del |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 16 | 31190398 | missense variant | C/T | snv | 1.2E-04 | 1.6E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 16 | 31191427 | missense variant | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 16 | 31191052 | stop gained | C/T | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 16 | 31185031 | missense variant | G/A | snv | 6.5E-05 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 16 | 31189158 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 16 | 31185103 | missense variant | G/T | snv | 1.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 16 | 31191431 | missense variant | C/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 1.000 | 10 | 2011 | 2019 | |||||||
|
0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.090 | 1.000 | 9 | 2010 | 2017 | |||||||
|
0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.080 | 1.000 | 8 | 2010 | 2017 |