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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 1 | 53213557 | missense variant | A/G | snv | 0.16 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.120 | 2 | 162277580 | stop gained | C/A;G;T | snv | 3.2E-03; 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 162279995 | splice donor variant | C/G;T | snv | 6.8E-03; 8.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.030 | 0.667 | 3 | 2011 | 2016 | |||
|
2 | 1.000 | 0.120 | 2 | 162268086 | splice donor variant | C/T | snv | 6.6E-03 | 5.1E-03 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.200 | 22 | 37195278 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.200 | X | 12920993 | synonymous variant | G/A;C | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.280 | 2 | 162268127 | missense variant | T/C | snv | 1.1E-02 | 1.2E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
13 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 |