| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 17 | 43104968 | intron variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 2016 | 2017 | ||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2001 | 2010 | ||||||||
|
0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.200 | 17 | 43104949 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.240 | 17 | 61776445 | stop gained | G/A | snv | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.320 | 11 | 108272782 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 7676210 | stop gained | -/CATT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 7675175 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 7675197 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 17 | 7676011 | stop gained | T/A;C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 11 | 94447288 | stop gained | G/A | snv | 6.0E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.240 | 17 | 61685911 | stop gained | G/A;C | snv | 4.0E-06; 2.8E-04 |
|
0.700 | 0 |