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 | 0.200 | 1 | 216325492 | missense variant | C/T | snv | 6.0E-05 |
|
0.800 | 1.000 | 0 | 1998 | 2013 | ||||||||
|
1.000 | 0.200 | 1 | 215648657 | missense variant | G/A | snv | 6.4E-05 | 1.2E-04 |
|
0.800 | 1.000 | 0 | 1998 | 2013 | |||||||
|
0.925 | 0.200 | 1 | 215674901 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1998 | 2013 | ||||||||
|
0.882 | 0.200 | 1 | 215671085 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 0 | 2000 | 2013 | |||||||||
|
0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 |
|
0.710 | 1.000 | 0 | 2007 | 2007 | ||||||||
|
0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 |
|
0.710 | 1.000 | 0 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 1 | 215671085 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||||
|
0.882 | 0.200 | 1 | 215671085 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 0 | 2007 | 2007 | |||||||||
|
0.882 | 0.200 | 1 | 216048648 | splice acceptor variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 1 | 215993103 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 1 | 215993103 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 1 | 216327637 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 0 |