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 | 15 | 51404526 | missense variant | C/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 1.000 | 0.080 | 19 | 38516111 | missense variant | C/G | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.120 | 9 | 128541124 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 19 | 38467655 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 18 | 10797517 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2017 | 2020 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 9 | 91724819 | missense variant | C/G;T | snv | 4.0E-06; 3.4E-04 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
8 | 0.851 | 0.200 | 17 | 10535137 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 9 | 91733251 | missense variant | T/A;C | snv | 1.7E-04 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
4 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 1.000 | 0.080 | 19 | 38477821 | missense variant | C/A;T | snv | 4.0E-06; 1.4E-04 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.882 | 0.320 | 18 | 44951952 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 11 | 47448071 | missense variant | C/A;T | snv | 1.6E-05; 8.0E-06 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 3 | 81537021 | missense variant | G/A;T | snv | 8.9E-06 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
9 | 0.790 | 0.320 | 18 | 10671729 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 13 | 101083752 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 3 | 38551159 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 1 | 197125045 | splice donor variant | C/G | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 0.700 | 0 |