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 | 6 | 32884870 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 12 | 47982508 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 57466149 | intron variant | G/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32894830 | upstream gene variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 1 | 115300189 | intron variant | A/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 15 | 67055348 | intron variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 12 | 128912087 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 8 | 4427170 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.320 | 1 | 172664210 | intron variant | A/G | snv | 9.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 32887940 | intergenic variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32889157 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 2 | 20003169 | missense variant | G/A | snv | 1.5E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 6 | 32891935 | upstream gene variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 121375864 | intron variant | C/T | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 161740587 | intron variant | C/T | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 13 | 94300578 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 32892975 | upstream gene variant | G/A | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 |