Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 0 | 2006 | 2010 | ||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.720 | 1.000 | 0 | 1997 | 1998 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.710 | 1.000 | 0 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 17 | 61799205 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 11 | 14294844 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 61683945 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 140753379 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 16 | 68833362 | missense variant | A/G | snv | 4.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 43070993 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 43051069 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 43082529 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 13 | 32319232 | missense variant | G/C | snv | 2.6E-04 | 3.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 2040586 | missense variant | C/G | snv | 8.1E-02 | 6.8E-02 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 11 | 94470575 | missense variant | G/A | snv | 5.2E-05 | 7.7E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 13 | 32394724 | missense variant | T/C | snv | 2.9E-04 | 2.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 |
|
0.700 | 0 |