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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.900 | 0.833 | 2 | 2010 | 2019 | ||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 7 | 116778953 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 7 | 116783402 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.925 | 0.080 | 7 | 116783421 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 5 | 1279417 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
1 | 1.000 | 0.080 | 5 | 1294548 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 5 | 1294790 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 8 | 13261659 | intron variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.851 | 0.200 | 9 | 134436505 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 160069961 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 160070006 | missense variant | G/A | snv | 0.700 | 0 |