Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 16 | 9768997 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 16 | 9829585 | missense variant | G/T | snv | 0.800 | 1.000 | 13 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 10180176 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.040 | 16 | 9764834 | missense variant | T/A | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 9798454 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 9822337 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 9849778 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 9937958 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 4 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 9798442 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 9840745 | missense variant | C/A;T | snv | 0.800 | 1.000 | 13 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9822286 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9840788 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9938097 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||
|
1 | 1.000 | 16 | 9829485 | missense variant | G/C | snv | 0.800 | 1.000 | 12 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9834227 | missense variant | G/C | snv | 0.800 | 1.000 | 12 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9840706 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9829476 | missense variant | A/C | snv | 0.800 | 1.000 | 12 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9764617 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 12 | 2010 | 2017 | |||||
|
1 | 1.000 | 16 | 9764747 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||||
|
1 | 1.000 | 16 | 9938479 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9834148 | stop gained | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9798269 | splice donor variant | GGTCTTACCATCACCCACA/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9822363 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 9829494 | missense variant | T/C | snv | 0.700 | 0 |