| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.870 | 1.000 | 22 | 2000 | 2018 | |||
|
2 | 0.925 | 0.040 | 5 | 147831537 | missense variant | A/C;G | snv | 0.800 | 1.000 | 5 | 2000 | 2010 | |||||
|
3 | 0.882 | 0.080 | 5 | 147828020 | splice donor variant | A/G;T | snv | 3.1E-04 | 0.700 | 1.000 | 7 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 147831551 | frameshift variant | G/- | del | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2004 | 2012 | |||
|
1 | 1.000 | 0.040 | 5 | 147831576 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 147829598 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 147831522 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 147829667 | intron variant | A/G | snv | 8.2E-03 | 7.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 5 | 147831577 | start lost | T/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 147828066 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 147828056 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 147824695 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 |