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 | 0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 13 | 32363384 | missense variant | G/A;C | snv | 2.1E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 13 | 32332790 | missense variant | G/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.240 | 13 | 32333120 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.240 | 13 | 32338566 | stop gained | C/A;G;T | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2013 | 2013 |