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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2004 | 2006 | |||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.720 | 1.000 | 4 | 2011 | 2013 | |||
|
13 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
9 | 0.763 | 0.320 | 11 | 64329761 | upstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.160 | 4 | 122633552 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
8 | 0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
9 | 0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
6 | 0.807 | 0.120 | 2 | 203747335 | regulatory region variant | A/G | snv | 0.81 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 12 | 106804833 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 |