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 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||||
|
7 | 0.827 | 0.120 | 4 | 55125564 | 5 prime UTR variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16219935 | missense variant | C/T | snv | 3.0E-04 | 0.700 | 0 | |||||||
|
9 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.240 | 16 | 16178909 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.200 | 16 | 16182875 | frameshift variant | C/-;CC | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.280 | 16 | 16188907 | missense variant | A/G | snv | 1.2E-04 | 3.6E-04 | 0.700 | 0 | ||||||
|
14 | 0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 | 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 | |||||||
|
1 | 18 | 22200698 | missense variant | C/G | snv | 2.5E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 |