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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 116782027 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 116783329 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 116782048 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 5 | 32000377 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 8 | 127877125 | intron variant | A/C | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 8 | 23019226 | 3 prime UTR variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 50441766 | intron variant | T/C | snv | 0.51 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 3 | 40491752 | intron variant | G/A | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 11 | 108486410 | missense variant | G/A | snv | 1.6E-02 | 1.6E-02 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 2 | 46298957 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 147830941 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 1 | 11157174 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.160 | 1 | 11109318 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 1 | 11109320 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |