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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 0.500 | 2 | 2002 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 10667285 | intron variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.200 | 8 | 11528767 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 12 | 68274666 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 3 | 9921132 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
17 | 0.827 | 0.120 | 3 | 123019460 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 |