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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 23 | 2008 | 2019 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 10 | 2007 | 2019 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.800 | 1.000 | 6 | 2011 | 2019 | ||||
|
10 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 5 | 2011 | 2019 | ||||
|
7 | 0.882 | 0.160 | 2 | 27508345 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 0.925 | 0.120 | 2 | 27520348 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.120 | 2 | 27520556 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.120 | 2 | 27505910 | intron variant | C/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 2 | 27508873 | intron variant | T/-;TT;TTT;TTTT;TTTTTT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 27523543 | 3 prime UTR variant | G/A | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.120 | 2 | 27499104 | intron variant | T/C | snv | 0.42 | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.120 | 2 | 27495607 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |