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 | 0.040 | 3 | 119891946 | intron variant | C/T | snv | 0.54 | 0.020 | 1.000 | 2 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 6 | 15650901 | intron variant | G/A | snv | 0.26 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
4 | 0.882 | 0.120 | 4 | 55432133 | 3 prime UTR variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 12 | 98699448 | missense variant | A/C | snv | 9.5E-03 | 7.8E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.120 | 15 | 60974897 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 12 | 98699432 | missense variant | G/A | snv | 3.4E-03 | 3.1E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | X | 43678769 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 152746792 | upstream gene variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | X | 43740274 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 3 | 120085289 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.807 | 0.160 | 17 | 76467027 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.120 | 17 | 76467306 | intron variant | C/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 16 | 59276838 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.807 | 0.280 | 6 | 132578260 | intergenic variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 5 | 79533426 | upstream gene variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.080 | 12 | 2512979 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |