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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 7 | 20727052 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 3 | 89210327 | missense variant | G/T | snv | 1.2E-03 | 9.8E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 215019657 | missense variant | G/A;T | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 44625622 | missense variant | C/G;T | snv | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 8061051 | missense variant | C/T | snv | 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 15110668 | missense variant | G/A | snv | 3.1E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 8 | 40005362 | missense variant | C/T | snv | 0.48 | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 8 | 40015416 | stop gained | T/A | snv | 0.23 | 0.19 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.200 | 15 | 88655497 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |