| 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 | 0.160 | 10 | 13283695 | missense variant | G/A | snv | 1.9E-04 | 7.0E-05 | 0.800 | 1.000 | 6 | 1997 | 2004 | |||
|
1 | 1.000 | 0.120 | 10 | 13288428 | missense variant | C/T | snv | 8.0E-06; 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 5 | 1997 | 2004 | |||
|
1 | 1.000 | 0.120 | 10 | 13283694 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.800 | 1.000 | 5 | 1997 | 2004 | |||
|
1 | 1.000 | 0.120 | 10 | 13283713 | missense variant | T/G | snv | 0.800 | 1.000 | 5 | 1997 | 2004 | |||||
|
1 | 1.000 | 0.120 | 10 | 13288512 | stop gained | G/A;T | snv | 0.800 | 1.000 | 5 | 1997 | 2004 | |||||
|
1 | 1.000 | 0.120 | 10 | 13283748 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1997 | 2004 | ||||
|
1 | 1.000 | 0.120 | 10 | 13288508 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 1997 | 2004 | |||
|
2 | 0.925 | 0.120 | 10 | 13295608 | splice acceptor variant | T/C | snv | 1.0E-04 | 1.7E-04 | 0.700 | 1.000 | 4 | 1997 | 2008 | |||
|
1 | 1.000 | 0.120 | 10 | 13294426 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 6 | 136898213 | stop gained | T/A | snv | 3.3E-04 | 4.7E-04 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.160 | 6 | 136822785 | stop gained | C/A;G;T | snv | 4.2E-05; 8.3E-05; 4.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 13295577 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 13288380 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 10 | 13283751 | frameshift variant | CA/- | delins | 0.700 | 0 |