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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 12 | 88562623 | intron variant | T/G | snv | 0.65 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.120 | 12 | 88566950 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.120 | 12 | 88557708 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.120 | 12 | 88559549 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
4 | 0.882 | 0.120 | 12 | 88559784 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
6 | 0.827 | 0.240 | 12 | 88560182 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
6 | 0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | X | 91907119 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 181512814 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.280 | 4 | 6274903 | intron variant | G/C | snv | 0.20 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 9 | 845516 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.807 | 0.120 | 9 | 863635 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 13 | 30702591 | intergenic variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 12 | 88453224 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
4 | 0.882 | 0.240 | 19 | 1220702 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.160 | 2 | 48694236 | missense variant | T/C | snv | 0.61 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 1220396 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 |