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 | 0.040 | 5 | 53646371 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 53560706 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 31850092 | non coding transcript exon variant | T/C | snv | 3.4E-03 | 3.4E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 5 | 53646345 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 47580977 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.040 | 2 | 201078946 | missense variant | T/C | snv | 8.5E-04 | 1.1E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 5 | 53683157 | frameshift variant | -/AAGTC | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 206144919 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | MT | 5132 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 11 | 67611982 | splice region variant | A/C | snv | 6.0E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 67608562 | missense variant | T/A;C | snv | 1.6E-05; 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | MT | 4810 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | MT | 11777 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 126273068 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 5 | 53603451 | splice acceptor variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 126275327 | missense variant | G/C | snv | 2.6E-04 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 5 | 53683152 | frameshift variant | A/-;AA | delins | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 53658555 | missense variant | G/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 206152508 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 11 | 47582437 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.200 | X | 47142690 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 11 | 67612225 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 1999 | 2015 | |||
|
5 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2005 | 2016 | |||
|
2 | 0.925 | 0.120 | 1 | 161210599 | missense variant | T/C | snv | 3.5E-04 | 1.1E-04 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
1 | 1.000 | 0.040 | 11 | 67611972 | missense variant | C/T | snv | 1.2E-04 | 1.4E-05 | 0.700 | 1.000 | 2 | 2008 | 2013 |