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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 12 | 67657500 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 243637661 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 16 | 24180881 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 16 | 3602208 | frameshift variant | CT/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 17 | 50109341 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 20638098 | missense variant | C/G;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 50617647 | missense variant | C/G;T | snv | 2.1E-04; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 20 | 388189 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 64839070 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 109430395 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 11 | 105030337 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.030 | 1.000 | 3 | 2005 | 2013 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | < 0.001 | 2 | 2005 | 2020 | ||||||||
|
0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||
|
1.000 | 0.040 | 20 | 3671756 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.020 | 0.500 | 2 | 2007 | 2017 |