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 | 0.160 | 13 | 51941111 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 23 | 1995 | 2017 | |||||||||
|
1.000 | 0.160 | 13 | 51950132 | stop gained | C/A;T | snv | 4.0E-06; 6.9E-04 |
|
0.800 | 1.000 | 0 | 1997 | 2019 | ||||||||
|
1.000 | 0.160 | 13 | 51946405 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51950277 | missense variant | A/G | snv |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||||
|
1.000 | 0.160 | 13 | 51960191 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 23 | 1995 | 2017 | |||||||||
|
1.000 | 0.160 | 13 | 51941201 | missense variant | C/T | snv | 8.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51958340 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
0.925 | 0.240 | 13 | 51937570 | missense variant | T/A;C | snv | 4.0E-06; 2.2E-04 |
|
0.820 | 1.000 | 23 | 1993 | 2018 | ||||||||
|
1.000 | 0.160 | 13 | 51937583 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51949772 | missense variant | G/A;C;T | snv | 6.0E-05; 2.8E-05; 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51950116 | missense variant | G/A | snv | 6.8E-05 | 1.4E-05 |
|
0.810 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51946438 | missense variant | C/T | snv | 3.6E-05 | 5.6E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51958369 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51961849 | missense variant | A/C | snv | 5.2E-04 | 4.0E-04 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51958543 | missense variant | A/G | snv | 4.9E-05 |
|
0.820 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51960198 | missense variant | C/T | snv |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||||
|
0.925 | 0.160 | 13 | 51942551 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51958334 | missense variant | G/A;C | snv | 5.2E-05; 8.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51958538 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51958535 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51944224 | missense variant | A/G | snv | 7.0E-06 |
|
0.810 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51944281 | missense variant | A/G | snv |
|
0.700 | 1.000 | 23 | 1995 | 2017 | |||||||||
|
1.000 | 0.160 | 13 | 51944144 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51946399 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51935611 | missense variant | G/A | snv |
|
0.700 | 1.000 | 23 | 1995 | 2017 |