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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 19 | 11106605 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.080 | 19 | 11131312 | missense variant | C/A;T | snv | 5.2E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 19 | 11106660 | missense variant | A/C;G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 11105468 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.882 | 0.120 | 19 | 11111523 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.080 | 19 | 11089560 | stop gained | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.120 | 19 | 11113585 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 19 | 11105537 | missense variant | C/G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.080 | 19 | 11113624 | stop gained | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 19 | 11116884 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 19 | 11102723 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 19 | 11105288 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.080 | 19 | 11105295 | stop gained | C/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 19 | 11105405 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.080 | 19 | 11105574 | frameshift variant | -/G | delins |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.080 | 19 | 11106614 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 19 | 11106633 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.080 | 19 | 11106667 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.160 | 19 | 11107424 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.080 | 19 | 11107469 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 11111627 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.080 | 19 | 11113302 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.882 | 0.080 | 19 | 11113321 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 19 | 11113368 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 |