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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.100 | 1.000 | 35 | 2006 | 2020 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.813 | 32 | 2000 | 2019 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.800 | 1.000 | 13 | 2010 | 2019 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.090 | 1.000 | 9 | 2006 | 2016 | |||||
|
8 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 0.090 | 1.000 | 9 | 2000 | 2016 | ||||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.060 | 1.000 | 6 | 2011 | 2017 | |||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.050 | 0.800 | 5 | 2014 | 2019 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.740 | 1.000 | 5 | 2008 | 2020 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.740 | 1.000 | 5 | 2010 | 2016 | ||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2003 | 2013 | |||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2011 | 2013 | |||||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 0.667 | 3 | 2012 | 2017 | |||||
|
17 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 0.030 | 1.000 | 3 | 2010 | 2017 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
7 | 0.827 | 0.200 | 11 | 108412434 | intron variant | C/A | snv | 0.49 | 0.020 | 0.500 | 2 | 2012 | 2012 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2015 | |||||
|
5 | 0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.710 | 1.000 | 2 | 2011 | 2018 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
3 | 0.925 | 0.080 | 9 | 8879118 | intron variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2012 | 2013 |