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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.160 | 16 | 16150577 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.160 | 16 | 16182534 | stop gained | C/A;T | snv | 9.1E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.160 | 16 | 16157755 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 16 | 16182506 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.160 | 16 | 16150727 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.200 | 16 | 16173393 | stop gained | G/C;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.200 | 16 | 16157675 | frameshift variant | -/GGAT | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16178955 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16188868 | frameshift variant | TGGGCCTTG/C | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16190280 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16214428 | missense variant | G/A | snv | 4.6E-04 | 3.0E-04 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.240 | 16 | 16163087 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.160 | 16 | 16163159 | missense variant | G/A | snv | 9.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
9 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.200 | 16 | 16155010 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.160 | 16 | 16159541 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16163084 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
9 | 0.851 | 0.240 | 16 | 16157810 | splice acceptor variant | C/T | snv | 4.1E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
9 | 0.882 | 0.240 | 16 | 16155007 | missense variant | C/G;T | snv | 6.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.200 | 16 | 16154767 | missense variant | G/A;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
8 | 0.925 | 0.200 | 16 | 16163008 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.320 | 16 | 16163110 | missense variant | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 |