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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 186841714 | upstream gene variant | G/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.120 | 3 | 186854303 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 |
|
0.030 | 0.667 | 3 | 2001 | 2019 | |||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.100 | 0.900 | 20 | 2002 | 2018 | ||||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.030 | 1.000 | 3 | 2002 | 2004 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.080 | 3 | 186853158 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2003 | |||||||
|
0.925 | 0.120 | 3 | 186854303 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 |
|
0.710 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 3 | 186854219 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 3 | 186854219 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 3 | 186854219 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.120 | 3 | 186854237 | missense variant | G/A | snv | 3.0E-03 | 2.9E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.120 | 3 | 186854237 | missense variant | G/A | snv | 3.0E-03 | 2.9E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.120 | 3 | 186854237 | missense variant | G/A | snv | 3.0E-03 | 2.9E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.100 | 0.833 | 12 | 2004 | 2019 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.100 | 0.727 | 11 | 2004 | 2019 | ||||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 |