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 | 6 | 2010 | 2019 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 2 | 27520556 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 27499549 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 27506613 | non coding transcript exon variant | G/A | snv | 0.40 | 0.39 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
3 | 0.925 | 0.120 | 2 | 27505910 | intron variant | C/G | snv | 0.39 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 27510585 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
3 | 0.925 | 0.120 | 2 | 27499104 | intron variant | T/C | snv | 0.42 | 0.47 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
7 | 0.882 | 0.160 | 2 | 27508345 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.120 | 2 | 27495607 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.925 | 0.120 | 2 | 27520348 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 27523965 | downstream gene variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 |