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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | X | 15578920 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 19 | 11113738 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16187213 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16212248 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
9 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.240 | 16 | 16155007 | missense variant | C/G;T | snv | 6.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.200 | 16 | 16154767 | missense variant | G/A;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
9 | 0.925 | 0.200 | 16 | 16154898 | missense variant | C/A;G;T | snv | 4.1E-06; 4.1E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.280 | 16 | 16154974 | missense variant | G/A;T | snv | 1.9E-04; 5.4E-06 | 0.700 | 0 | |||||||
|
13 | 0.790 | 0.240 | 16 | 16159555 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
7 | 1.000 | 0.160 | 16 | 16154873 | missense variant | C/G;T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
10 | 0.882 | 0.240 | 16 | 16178909 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.240 | 16 | 16190247 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 1.000 | 0.160 | 16 | 16190315 | missense variant | A/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 1.000 | 0.160 | 16 | 16182566 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.160 | 16 | 16182562 | missense variant | C/A;T | snv | 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 0.700 | 0 |