| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 22 | 40487595 | intron variant | C/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 40601107 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 40564688 | intron variant | C/T | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 69328516 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 10506215 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.080 | 12 | 95633983 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 8 | 30384102 | intron variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 2 | 27375230 | intron variant | T/C | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 118957860 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 15 | 61928573 | intron variant | C/T | snv | 8.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 62418898 | intron variant | -/ATAACTTT;ATAATTTT;ATAGTTTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 62427805 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 |