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 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 | 0.900 | 0.929 | 14 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.160 | 6 | 31943161 | intron variant | G/T | snv | 0.12 | 0.100 | 1.000 | 14 | 2007 | 2018 | ||||
|
4 | 0.851 | 0.160 | 6 | 31962685 | intron variant | G/A | snv | 0.14 | 0.16 | 0.870 | 1.000 | 12 | 2010 | 2019 | |||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.890 | 0.900 | 10 | 2010 | 2019 | ||||
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.840 | 0.875 | 8 | 2010 | 2019 | ||||
|
3 | 0.882 | 0.160 | 11 | 57610852 | intron variant | C/T | snv | 0.39 | 0.070 | 0.714 | 7 | 2008 | 2015 | ||||
|
3 | 0.925 | 0.040 | 15 | 58395681 | intron variant | T/C | snv | 0.50 | 0.860 | 1.000 | 7 | 2010 | 2019 | ||||
|
9 | 0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 | 0.830 | 1.000 | 6 | 2006 | 2019 | ||||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.730 | 1.000 | 6 | 2010 | 2019 | ||||
|
13 | 0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 | 0.740 | 0.600 | 5 | 2011 | 2018 | ||||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.800 | 1.000 | 4 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196691131 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 4 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 196912470 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2010 | 2013 | |||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.830 | 0.750 | 4 | 2012 | 2015 | |||
|
2 | 0.925 | 0.160 | 1 | 196731921 | intron variant | G/A;C;T | snv | 0.810 | 1.000 | 4 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.040 | 14 | 68318360 | intron variant | G/A | snv | 0.54 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196707805 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||
|
4 | 0.882 | 0.040 | 4 | 56920284 | intron variant | G/T | snv | 0.92 | 0.820 | 0.667 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 0.700 | 1.000 | 3 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.160 | 10 | 122458116 | intron variant | T/G | snv | 0.63 | 0.710 | 1.000 | 3 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 196705584 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196715495 | intron variant | G/T | snv | 0.65 | 0.710 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 122475839 | intron variant | G/C;T | snv | 0.710 | 1.000 | 3 | 2010 | 2013 | |||||
|
4 | 0.882 | 0.040 | 10 | 122455905 | intron variant | C/T | snv | 0.23 | 0.720 | 1.000 | 3 | 2011 | 2018 |