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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 2030174 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 17 | 43063937 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 43093393 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 43057083 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 17 | 43092155 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32333367 | missense variant | C/T | snv | 2.1E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 32380076 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.320 | 11 | 108307985 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
26 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.200 | 17 | 39723335 | missense variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
11 | 0.776 | 0.320 | 15 | 90761015 | stop gained | C/A;T | snv | 4.1E-06; 1.4E-04 | 1.7E-04 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
13 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.360 | 6 | 43783338 | non coding transcript exon variant | A/G | snv | 0.18 | 0.010 | < 0.001 | 1 | 2010 | 2010 |