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 | 0.080 | 19 | 17250255 | synonymous variant | C/A;G;T | snv | 4.1E-06; 0.16 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17260759 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17248726 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17261390 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17252635 | intron variant | G/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17252259 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17252250 | intron variant | C/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17253276 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 1 | 19165686 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 21 | 44612576 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 120118309 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 31890853 | missense variant | C/T | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 21 | 10561176 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 24080899 | missense variant | A/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.720 | 1.000 | 0 | 2012 | 2015 | ||||||||
|
0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 0 | 2011 | 2020 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.750 | 1.000 | 0 | 2011 | 2018 | ||||||||
|
0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 16 | 52514125 | intron variant | A/G | snv | 0.48 |
|
0.770 | 0.875 | 1 | 2007 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 52500255 | intron variant | T/C | snv | 0.61 |
|
0.770 | 0.875 | 1 | 2007 | 2019 |