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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 19 | 12351131 | missense variant | G/A | snv | 1.9E-03 | 7.8E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 89637349 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 179199142 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 19 | 1220627 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 144474963 | missense variant | T/A | snv | 5.7E-03 | 2.3E-02 | 0.700 | 0 | ||||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 48187279 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 142751983 | missense variant | C/G;T | snv | 4.0E-06; 6.8E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 157509314 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 23186443 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 10 | 49493167 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 124268929 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 21 | 31217663 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 94399540 | missense variant | C/A | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 114575593 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 58646668 | missense variant | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 150389929 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 57165879 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 52616193 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 48123636 | missense variant | C/T | snv | 4.0E-05 | 6.3E-05 | 0.700 | 0 |