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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 96605977 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | X | 134475257 | missense variant | G/C | snv | 0.810 | 1.000 | 16 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134473453 | missense variant | T/C | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134475268 | missense variant | C/A | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134490192 | missense variant | T/A | snv | 0.810 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134498670 | missense variant | T/G | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134475255 | missense variant | G/A | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134500030 | missense variant | C/G | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134473465 | missense variant | G/A | snv | 4.4E-05 | 0.800 | 1.000 | 15 | 1983 | 2014 | ||||
|
1 | 1.000 | 0.120 | X | 134498433 | missense variant | G/T | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134498431 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
2 | 0.925 | 0.120 | X | 134475216 | missense variant | T/C | snv | 0.700 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134493533 | missense variant | T/A | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
4 | 0.925 | 0.120 | X | 134475194 | missense variant | G/C | snv | 0.700 | 1.000 | 15 | 1983 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 134498655 | missense variant | G/A;C | snv | 0.800 | 1.000 | 15 | 1983 | 2014 | |||||
|
2 | 0.925 | 0.160 | X | 134486471 | stop gained | C/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 3 | 1990 | 1997 | ||||
|
2 | 0.925 | 0.160 | X | 134498683 | frameshift variant | -/T | delins | 0.700 | 1.000 | 3 | 2000 | 2017 | |||||
|
2 | 0.925 | 0.200 | X | 134498412 | stop gained | C/A;T | snv | 4.4E-05 | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | X | 134473378 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 134475197 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 134493524 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 134493564 | stop gained | T/G | snv | 0.700 | 0 |