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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2004 | 2016 | |||||
|
5 | 0.827 | 0.120 | 1 | 40818164 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 156134454 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 201363407 | splice acceptor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 156115192 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 201364342 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 156137118 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156136257 | missense variant | C/A;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 201361305 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 1 | 156115262 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178531566 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 178609769 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178609842 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 178531665 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 178559330 | frameshift variant | CTTT/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv | 0.700 | 0 |