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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
3 | 0.882 | 0.080 | 1 | 22784698 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 15 | 89649809 | missense variant | C/T | snv | 1.1E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 22 | 23791772 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 19 | 35651301 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 1 | 235980495 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.040 | 17 | 50277743 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 16 | 3729810 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 17 | 31352411 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.120 | 5 | 150125556 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 17 | 2039760 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
6 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 0.700 | 0 |