Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 15 | 89215133 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.810 | 1.000 | 3 | 1997 | 2001 | ||||
|
2 | 0.925 | 0.040 | 12 | 55724468 | missense variant | G/C | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 13 | 1999 | 2017 | |||
|
1 | 1.000 | 0.040 | 12 | 55721760 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 13 | 1999 | 2017 | |||
|
2 | 0.925 | 0.040 | 12 | 55724427 | missense variant | G/A;T | snv | 8.4E-05 | 0.800 | 1.000 | 6 | 1999 | 2004 | ||||
|
2 | 0.925 | 0.040 | 12 | 55724028 | missense variant | G/A;C;T | snv | 4.1E-06; 2.2E-04 | 0.800 | 0 | |||||||
|
3 | 0.882 | 0.040 | 12 | 55721287 | missense variant | G/A;T | snv | 1.6E-05 | 0.710 | 1.000 | 14 | 1999 | 2017 | ||||
|
4 | 0.851 | 0.080 | 12 | 55721908 | missense variant | T/G | snv | 8.1E-06 | 0.710 | 0.923 | 13 | 1999 | 2017 | ||||
|
2 | 0.925 | 0.040 | 12 | 55721902 | missense variant | A/G;T | snv | 4.0E-06; 8.1E-06 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 12 | 55721847 | missense variant | C/A;T | snv | 4.0E-06; 4.4E-05 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
2 | 0.925 | 0.040 | 12 | 55721402 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 55721772 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 55721868 | missense variant | G/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 55721914 | missense variant | A/C;G | snv | 8.1E-06; 2.8E-05 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 55721469 | stop gained | G/A | snv | 2.8E-05 | 0.700 | 1.000 | 4 | 2001 | 2012 | ||||
|
4 | 0.851 | 0.080 | 15 | 89211750 | missense variant | A/T | snv | 4.4E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 1997 | 2001 | |||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 55720518 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 12 | 55724429 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 55721691 | missense variant | C/A;G | snv | 4.1E-06; 8.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 12 | 55721344 | stop gained | C/T | snv | 3.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 12 | 55724346 | missense variant | T/G | snv | 8.0E-05 | 1.4E-05 | 0.700 | 0 |