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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 0.020 | 1.000 | 2 | 2009 | 2009 | |||
|
1 | 5 | 58988559 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 11 | 74005787 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 31577208 | missense variant | G/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 58989799 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 7 | 95316748 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 11 | 74006370 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 6 | 43770732 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 6 | 159762678 | non coding transcript exon variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 11 | 102796745 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 5 | 59038945 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 2 | 189009011 | missense variant | A/G | snv | 4.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |