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 | 17 | 61799205 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.280 | 11 | 14294844 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 61683945 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 140753379 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 16 | 68833362 | missense variant | A/G | snv | 4.4E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
13 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 43070993 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 43051069 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 17 | 43082529 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 13 | 32319232 | missense variant | G/C | snv | 2.6E-04 | 3.1E-04 | 0.700 | 0 | ||||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 2040586 | missense variant | C/G | snv | 8.1E-02 | 6.8E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 94470575 | missense variant | G/A | snv | 5.2E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 13 | 32394724 | missense variant | T/C | snv | 2.9E-04 | 2.5E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 32356497 | missense variant | G/A;C;T | snv | 6.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 0.700 | 0 |