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 | 0.120 | 5 | 112839531 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 5 | 112838674 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
10 | 0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.080 | 15 | 67884824 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.080 | 4 | 181892145 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.080 | 6 | 138801103 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.120 | 15 | 66435103 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 7 | 55160314 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.120 | 5 | 68295269 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 17 | 39723405 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |