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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.900 | 0.905 | 42 | 2008 | 2019 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.900 | 1.000 | 22 | 2007 | 2019 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.900 | 1.000 | 15 | 2007 | 2019 | ||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.890 | 0.800 | 10 | 2010 | 2019 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.890 | 1.000 | 10 | 2007 | 2016 | |||||
|
9 | 0.925 | 0.120 | 16 | 28871920 | missense variant | A/G;T | snv | 0.35 | 0.880 | 0.778 | 9 | 2011 | 2015 | ||||
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.860 | 0.889 | 9 | 2011 | 2014 | |||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.840 | 1.000 | 6 | 2007 | 2012 | |||||
|
3 | 0.925 | 0.120 | 18 | 23560468 | missense variant | T/C | snv | 0.33 | 0.29 | 0.830 | 1.000 | 4 | 2009 | 2013 | |||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.820 | 0.833 | 6 | 2008 | 2013 | ||||
|
5 | 0.925 | 0.120 | 16 | 53788739 | intron variant | A/G;T | snv | 0.810 | 1.000 | 4 | 2011 | 2019 | |||||
|
5 | 0.925 | 0.120 | 16 | 53779538 | intron variant | A/T | snv | 0.40 | 0.810 | 1.000 | 4 | 2011 | 2015 | ||||
|
6 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.080 | 10 | 16257952 | intergenic variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2009 | 2013 | |||||
|
10 | 0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 | 0.810 | 1.000 | 2 | 2012 | 2013 | ||||
|
4 | 0.925 | 0.120 | 9 | 28425517 | intron variant | C/G | snv | 0.26 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 79648854 | regulatory region variant | T/C | snv | 0.44 | 0.810 | 1.000 | 2 | 2009 | 2013 | ||||
|
8 | 0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.810 | 1.000 | 2 | 2013 | 2019 | |||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.810 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 0.925 | 0.080 | 11 | 66127695 | intron variant | A/G | snv | 0.46 | 0.810 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.160 | 11 | 27541835 | intron variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2011 | 2018 | |||||
|
2 | 0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 0.810 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 | 0.810 | 1.000 | 1 | 2007 | 2007 | |||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.800 | 0.947 | 151 | 2007 | 2020 |