| 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 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
0.882 | 0.120 | 3 | 38581002 | stop gained | C/A;T | snv | 1.1E-04 | 1.5E-04 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.827 | 0.120 | 3 | 38622401 | stop gained | C/A;G;T | snv | 4.1E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38585879 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38585777 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38557275 | stop gained | T/A;C | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38554450 | stop gained | C/A;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38550560 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38605974 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38597755 | stop gained | C/A;T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||
|
1.000 | 0.080 | 3 | 38566436 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38585749 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
0.925 | 0.120 | 3 | 38566576 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38556557 | stop gained | C/A;G | snv |
|
0.700 | 1.000 | 20 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38630327 | stop gained | T/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 25 | 1998 | 2017 | ||||||||
|
0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 38609824 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 38609788 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 3.5E-05 |
|
0.700 | 1.000 | 25 | 1998 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 38550569 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 1.000 | 25 | 1998 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 38606709 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.800 | 1.000 | 24 | 1998 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 38609823 | missense variant | C/T | snv | 1.6E-05 |
|
0.800 | 1.000 | 24 | 1998 | 2017 |