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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 11 | 71441401 | stop gained | C/G;T | snv | 7.7E-04 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
9 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
17 | 0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
20 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
31 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
24 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
32 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
20 | 0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.160 | 11 | 71439055 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 0.700 | 0 | |||||||
|
23 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 0.700 | 0 |