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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2003 | 2014 | ||||
|
2 | 0.925 | 0.200 | 11 | 102123167 | intron variant | G/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 102172509 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.120 | 11 | 102199763 | intron variant | C/T | snv | 7.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 102199908 | intron variant | A/G | snv | 8.2E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | 0.500 | 2 | 2011 | 2016 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.882 | 0.200 | 3 | 10289835 | missense variant | C/T | snv | 7.0E-03 | 7.3E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.925 | 0.120 | 6 | 104931079 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.200 | 11 | 108412434 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.080 | 0.875 | 8 | 2001 | 2016 | ||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.090 | 0.444 | 9 | 2007 | 2017 | |||||
|
5 | 0.925 | 0.160 | 10 | 113029056 | intron variant | T/C | snv | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2014 | 2015 | |||||
|
2 | 0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 | 0.020 | < 0.001 | 2 | 2010 | 2012 | ||||
|
2 | 0.925 | 0.160 | 10 | 113106413 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 10 | 113127963 | intron variant | T/C | snv | 0.16 | 0.030 | 0.333 | 3 | 2009 | 2013 | ||||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.020 | 0.500 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 114078510 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 10 | 117278157 | 3 prime UTR variant | G/A | snv | 0.77 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 10 | 117279248 | 3 prime UTR variant | C/A | snv | 0.14 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 11766380 | upstream gene variant | A/T | snv | 0.72 | 0.700 | 1.000 | 2 | 2015 | 2018 |