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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 18 | 2011 | 2019 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
3 | 0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
7 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
6 | 0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
12 | 0.776 | 0.320 | 3 | 159988493 | intron variant | T/G | snv | 0.10 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.120 | 5 | 68293310 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 7 | 55143387 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
5 | 0.925 | 0.120 | 5 | 68295269 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 7 | 55143386 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.240 | 3 | 179199156 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |