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 | 1.000 | 0.080 | 7 | 20336395 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 214388009 | intron variant | T/C | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 100823256 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.120 | 9 | 127843106 | synonymous variant | C/T | snv | 9.3E-02 | 0.14 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
4 | 0.925 | 0.120 | 9 | 127825767 | missense variant | C/G | snv | 1.3E-04 | 7.8E-04 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
3 | 0.925 | 0.120 | 19 | 8373832 | synonymous variant | G/A;C | snv | 0.10; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 3 | 12618557 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 20 | 46016514 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 6 | 32222629 | synonymous variant | A/G | snv | 0.38 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.776 | 0.240 | 9 | 22031006 | non coding transcript exon variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 |