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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 18 | 10797517 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2017 | 2020 | |||||
|
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 | ||||
|
2 | 1.000 | 0.080 | 9 | 91733251 | missense variant | T/A;C | snv | 1.7E-04 | 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 | |||||
|
2 | 1.000 | 0.080 | 19 | 38516111 | missense variant | C/G | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
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 | 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 | |||||
|
12 | 0.807 | 0.080 | 9 | 37784953 | missense variant | C/G | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 5 | 128408688 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 0.700 | 0 |