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 | 0.882 | 0.040 | 6 | 34068669 | intron variant | C/T | snv | 0.25 | 0.820 | 1.000 | 3 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.040 | 5 | 65151950 | splice region variant | C/G;T | snv | 0.48 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 100188458 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 28734673 | missense variant | C/A | snv | 0.800 | 0 | ||||||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.720 | 1.000 | 2 | 2007 | 2012 | ||||
|
4 | 0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 | 0.720 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 12 | 119235698 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 6534080 | missense variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 22 | 28734468 | missense variant | G/A;C;T | snv | 9.1E-04; 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 0.700 | 0 |