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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 17 | 18865880 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 64590769 | 5 prime UTR variant | A/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 94404745 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2012 | |||
|
8 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 11 | 64598551 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 22 | 48710770 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.040 | 6 | 43780749 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 20 | 53953466 | missense variant | C/T | snv | 1.2E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.120 | 18 | 79411390 | missense variant | C/A;T | snv | 2.1E-04; 4.8E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 16 | 89637551 | splice region variant | C/T | snv | 2.2E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 6 | 7226577 | missense variant | A/G | snv | 1.8E-04 | 2.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 16 | 20341262 | missense variant | G/A;T | snv | 7.4E-04; 1.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.200 | 11 | 2527999 | missense variant | C/T | snv | 1.6E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.120 | 4 | 9942000 | missense variant | C/G;T | snv | 4.0E-05; 3.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 11 | 64592788 | missense variant | G/A;C | snv | 4.8E-05; 9.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 98957359 | missense variant | G/A | snv | 1.1E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 5 | 73123606 | missense variant | G/A | snv | 6.8E-05; 8.0E-06 | 9.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 |