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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 10 | 87864524 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 87957867 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 19 | 1207058 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 19 | 1219352 | missense variant | G/C;T | snv | 0.800 | 0 | ||||||||
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 19 | 1220416 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 7930659 | stop gained | G/A;C | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 9 | 21971180 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 32394741 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 52405163 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 4 | 105218230 | intron variant | T/C | snv | 0.12 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.160 | 19 | 1220488 | missense variant | G/A;T | snv | 0.800 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.040 | 3 | 169747154 | regulatory region variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 33955221 | intron variant | C/A | snv | 0.81 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 5 | 17453974 | intron variant | C/T | snv | 3.9E-03 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 4 | 54726020 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |