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 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 22 | 42212712 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
52 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.120 | 15 | 79845388 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
15 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
17 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 1.000 | 41 | 2001 | 2018 | |||
|
5 | 0.882 | 0.080 | 14 | 73186878 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.925 | 0.120 | 14 | 73192843 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
14 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.080 | 9 | 129818752 | missense variant | A/T | snv | 4.8E-05 | 1.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 17 | 46935122 | missense variant | G/T | snv | 6.0E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 12 | 53309229 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 18 | 12367329 | missense variant | C/G;T | snv | 8.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |