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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.800 | 0.947 | 151 | 2007 | 2020 | ||||
|
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 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.890 | 1.000 | 10 | 2007 | 2016 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.100 | 0.900 | 10 | 2008 | 2019 | |||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.760 | 0.857 | 7 | 2008 | 2018 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.840 | 1.000 | 6 | 2007 | 2012 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.060 | 1.000 | 6 | 2009 | 2019 | |||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.820 | 0.833 | 6 | 2008 | 2013 | ||||
|
10 | 0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 | 0.740 | 1.000 | 5 | 2009 | 2015 | ||||
|
2 | 1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
7 | 0.882 | 0.120 | 15 | 67794500 | intron variant | G/A | snv | 0.29 | 0.040 | 1.000 | 4 | 2012 | 2016 | ||||
|
8 | 0.882 | 0.160 | 16 | 53784548 | intron variant | G/T | snv | 0.30 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.040 | 1.000 | 4 | 2011 | 2017 | |||||
|
5 | 0.925 | 0.120 | 16 | 53788739 | intron variant | A/G;T | snv | 0.810 | 1.000 | 4 | 2011 | 2019 | |||||
|
6 | 0.925 | 0.120 | 16 | 53776774 | intron variant | T/C | snv | 0.40 | 0.710 | 1.000 | 4 | 2007 | 2012 | ||||
|
5 | 0.925 | 0.120 | 16 | 53779538 | intron variant | A/T | snv | 0.40 | 0.810 | 1.000 | 4 | 2011 | 2015 | ||||
|
4 | 0.882 | 0.120 | 15 | 89668592 | intron variant | C/T | snv | 0.29 | 0.040 | 1.000 | 4 | 2008 | 2013 | ||||
|
3 | 0.925 | 0.120 | 16 | 53782926 | intron variant | G/A | snv | 0.40 | 0.710 | 1.000 | 4 | 2010 | 2019 | ||||
|
10 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.710 | 1.000 | 4 | 2007 | 2012 | ||||
|
6 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.720 | 0.667 | 3 | 2009 | 2013 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
12 | 0.752 | 0.320 | 7 | 80615623 | intron variant | G/A | snv | 0.49 | 0.030 | 1.000 | 3 | 2015 | 2017 | ||||
|
3 | 0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 | 0.030 | 0.667 | 3 | 2008 | 2009 |