| 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 | 0.200 | 16 | 3249592 | missense variant | G/C | snv | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 22 | 17189987 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.200 | 16 | 50712108 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 22 | 17203576 | missense variant | G/A | snv | 5.2E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.200 | 16 | 3254736 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 16 | 50710956 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 16 | 3249480 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.200 | 15 | 77032888 | missense variant | G/A;C | snv | 2.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 12 | 6333376 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 16 | 50712357 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2000 | 2004 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.360 | 12 | 109581427 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.400 | 12 | 109596515 | missense variant | G/A | snv | 1.6E-03 | 1.5E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.200 | 6 | 31577481 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.200 | 17 | 60150074 | missense variant | C/T | snv | 2.5E-04 | 1.4E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.200 | 16 | 3247166 | missense variant | G/C;T | snv | 4.0E-05; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.200 | 6 | 52187730 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.200 | 6 | 52187736 | missense variant | G/A | snv | 5.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |