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 | 0.080 | 17 | 4143774 | missense variant | C/G;T | snv | 4.8E-05; 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 56223783 | missense variant | C/G;T | snv | 9.5E-05; 4.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 28126805 | missense variant | G/A | snv | 2.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 101223799 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.080 | 4 | 145819473 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.080 | 4 | 145811502 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 64076947 | intron variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 12351131 | missense variant | G/A | snv | 1.9E-03 | 7.8E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 12350857 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 21809307 | missense variant | G/A | snv | 1.8E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 21421246 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43564228 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 20 | 53581860 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 43997278 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 35415633 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 |
|
0.810 | 1.000 | 7 | 2014 | 2019 | ||||||||
|
0.776 | 0.080 | 10 | 79286508 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 16 | 2832196 | 3 prime UTR variant | G/T | snv | 0.66 | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 8 | 17217176 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2019 |