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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87957893 | stop gained | T/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 10 | 87961096 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 10 | 87952230 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
17 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 16 | 2119114 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
52 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
13 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
11 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 4 | 55088939 | missense variant | G/A;C | snv | 9.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 5 | 180618911 | missense variant | G/A;C | snv | 3.5E-03; 5.2E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
6 | 0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |