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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 156579109 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 226796570 | inframe deletion | ACC/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 44149772 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 17430887 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.280 | 12 | 120997504 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 92969904 | missense variant | T/A;G | snv | 2.0E-05; 3.2E-04 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.080 | 7 | 44149763 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 12349804 | intron variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 12349824 | intron variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 170998236 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 6289001 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 4 | 26406269 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 17387124 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17474884 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 12 | 120994264 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 92981507 | missense variant | C/A;T | snv | 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 7141787 | missense variant | T/C | snv | 1.2E-04 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 92982146 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 7 | 44145176 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
15 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17387248 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 |