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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.320 | 2 | 15945666 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
16 | 0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
20 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
26 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
46 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.700 | 0 | ||||||
|
32 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 0.700 | 0 |