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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.890 | 0.889 | 9 | 2009 | 2019 | |||||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.840 | 0.750 | 4 | 2012 | 2019 | |||||
|
5 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 6 | 20718009 | intron variant | A/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 6 | 20659575 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 6 | 20725009 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 6 | 20641105 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 7 | 44145638 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||||
|
5 | 0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 7 | 44149823 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 7 | 44147807 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.100 | 0.957 | 23 | 2011 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.100 | 0.944 | 18 | 2007 | 2019 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.800 | 10 | 2004 | 2018 | |||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.080 | 1.000 | 8 | 2011 | 2019 | |||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.080 | 1.000 | 8 | 2005 | 2016 |