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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.851 | 0.280 | 16 | 16154974 | missense variant | G/A;T | snv | 1.9E-04; 5.4E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 16 | 16188841 | missense variant | G/A;T | snv | 2.3E-04 | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 16 | 16202113 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.851 | 0.240 | 16 | 16202006 | missense variant | T/C | snv | 5.6E-03 | 4.7E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
12 | 0.827 | 0.240 | 16 | 16163087 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 16 | 16150765 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 16219577 | frameshift variant | -/G | delins | 5.1E-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 | ||||||
|
11 | 0.851 | 0.200 | 16 | 16155010 | missense variant | C/T | snv | 4.8E-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 | ||||||
|
13 | 0.790 | 0.240 | 16 | 16159555 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.160 | 16 | 16178919 | missense variant | C/A;G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.240 | 16 | 16190247 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
16 | 0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.240 | 16 | 16173283 | splice donor variant | C/A | snv | 8.0E-06; 1.2E-04 | 1.7E-04 | 0.700 | 0 |