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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.732 | 0.120 | 3 | 48593538 | missense variant | T/C | snv | 3.2E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.827 | 0.200 | 3 | 48590258 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 20 | 967282 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 968028 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 20 | 968024 | missense variant | T/C | snv | 8.8E-05; 4.0E-06 | 1.0E-04 | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 20 | 967264 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 20 | 967230 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 1.000 | 17 | 41620961 | splice region variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 968019 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 968000 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 968119 | frameshift variant | -/C | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 967299 | missense variant | C/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 |