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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 12 | 10159692 | 3 prime UTR variant | A/T | snv | 7.4E-02 | 0.700 | 0 | |||||||
|
18 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.240 | 16 | 16157810 | splice acceptor variant | C/T | snv | 4.1E-05 | 1.4E-05 | 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 | |||||||
|
13 | 0.851 | 0.320 | 16 | 16163110 | missense variant | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.240 | 16 | 16159556 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.200 | 16 | 16150204 | missense variant | C/T | snv | 6.0E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
10 | 0.882 | 0.240 | 16 | 16178909 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.240 | 16 | 16154644 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
12 | 0.851 | 0.280 | 16 | 16202045 | stop gained | G/A | snv | 4.8E-05 | 1.8E-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 | ||||||
|
13 | 0.851 | 0.240 | 16 | 16202006 | missense variant | T/C | snv | 5.6E-03 | 4.7E-03 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.200 | 16 | 16175934 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.280 | 16 | 16169667 | missense variant | C/G;T | snv | 4.1E-06; 2.5E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.240 | 16 | 16182799 | splice region variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.240 | 16 | 16173283 | splice donor variant | C/A | snv | 8.0E-06; 1.2E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.200 | 16 | 16190210 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 0.700 | 0 | ||||||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 22 | 37576621 | intron variant | G/A | snv | 0.49 | 0.020 | < 0.001 | 2 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 4 | 177309998 | synonymous variant | C/A | snv | 0.20 | 0.20 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
7 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 |