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 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.800 | 1.000 | 13 | 2010 | 2019 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.100 | 1.000 | 11 | 2009 | 2020 | ||||
|
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 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.080 | 1.000 | 8 | 2004 | 2018 | |||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.060 | 1.000 | 6 | 2011 | 2017 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.740 | 1.000 | 5 | 2008 | 2020 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.050 | 1.000 | 5 | 1999 | 2014 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.740 | 1.000 | 5 | 2010 | 2016 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.040 | 1.000 | 4 | 2002 | 2008 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.040 | 1.000 | 4 | 2013 | 2018 | |||
|
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 | |||||
|
3 | 0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 | 0.030 | 1.000 | 3 | 2000 | 2019 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2015 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 1999 | 2010 | ||||
|
5 | 0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2011 | 2013 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2006 | 2017 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2018 |