Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 116782027 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 7 | 116783329 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 7 | 116782048 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 32000377 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 8 | 127877125 | intron variant | A/C | snv | 0.53 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 8 | 23019226 | 3 prime UTR variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 1 | 50441766 | intron variant | T/C | snv | 0.51 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 40491752 | intron variant | G/A | snv | 0.36 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 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 | 1.000 | 0.120 | 2 | 46298957 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 147830941 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.240 | 1 | 11157174 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 1 | 11109318 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 1 | 11109320 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |