| 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 | 19 | 2991816 | intron variant | T/A;C;G | snv | 0.97; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 89401634 | missense variant | T/C | snv | 0.97 | 0.93 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 5 | 170108518 | synonymous variant | T/C | snv | 0.91 | 0.90 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 9 | 4844507 | intron variant | G/A;C;T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 227284391 | non coding transcript exon variant | A/G;T | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 19 | 2853568 | missense variant | A/C;G | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 39125018 | intron variant | A/G | snv | 0.87 | 0.82 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 186156052 | missense variant | A/G | snv | 0.86 | 0.89 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 13 | 110524046 | synonymous variant | A/G | snv | 0.86 | 0.81 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 186153679 | missense variant | A/G | snv | 0.86 | 0.88 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 2 | 238185147 | intron variant | T/C;G | snv | 0.86 | 0.85 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 186151876 | intron variant | T/A;C;G | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 178764734 | missense variant | C/G;T | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 19 | 48061830 | missense variant | C/A;T | snv | 7.2E-06; 0.82 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 100098747 | intron variant | C/A;G;T | snv | 8.0E-06; 0.81; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 17632830 | missense variant | C/A;G;T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 17 | 2040594 | synonymous variant | T/C | snv | 0.79 | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 37683093 | 3 prime UTR variant | A/C;G;T | snv | 0.79 | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 55320988 | missense variant | G/A | snv | 0.77 | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 55321092 | missense variant | C/G;T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 57655971 | synonymous variant | T/C | snv | 0.76 | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 10 | 5948936 | 3 prime UTR variant | C/T | snv | 0.76 | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 17 | 16832218 | splice region variant | T/A;C | snv | 3.1E-04; 0.75 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 58293742 | synonymous variant | A/G | snv | 0.73 | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |