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 | 6 | 36684381 | missense variant | C/T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
1.000 | 0.080 | 7 | 100856990 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 0.500 | 2 | 1998 | 1999 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 0.500 | 2 | 1998 | 1999 | |||||||
|
0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.882 | 0.080 | 17 | 43074454 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 3 | 37020444 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.200 | 13 | 32316462 | start lost | T/A;C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.080 | 17 | 43074471 | missense variant | C/A | snv | 2.4E-03 | 2.4E-03 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 11 | 125629291 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.807 | 0.240 | 11 | 67586553 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.882 | 0.080 | 11 | 108251865 | missense variant | C/G | snv | 3.9E-03 | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.827 | 0.160 | 9 | 95447312 | missense variant | G/A;C;T | snv | 0.39; 1.2E-05; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.280 | 17 | 7674945 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 61784279 | missense variant | T/A | snv | 3.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 17 | 43063340 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 17 | 39717388 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 8 | 47737362 | missense variant | C/A;G;T | snv | 2.7E-05; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 |