| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 53893411 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 32891971 | upstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 10 | 72018509 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 3 | 3638168 | intergenic variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 12 | 53100807 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 32894830 | upstream gene variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
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 | |||||||||
|
1.000 | 0.040 | 6 | 32889157 | intergenic variant | T/C;G | snv |
|
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 | |||||||||
|
0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 |
|
0.700 | 0 | ||||||||||
|
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 | 12 | 121375864 | intron variant | C/T | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 24315964 | intron variant | G/A | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
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 | 15 | 67055348 | intron variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 32892975 | upstream gene variant | G/A | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32891935 | upstream gene variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.320 | 17 | 50200388 | intron variant | C/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 32884870 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32888604 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |