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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 0.700 | 1.000 | 5 | 2007 | 2011 | |||||
|
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 | |||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
5 | 0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.120 | 2 | 47073816 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 5 | 150228191 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
11 | 0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 12 | 114355868 | stop gained | G/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 16 | 86510849 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.160 | 8 | 143818077 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 0.700 | 0 |