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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.854 | 123 | 1997 | 2019 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.869 | 84 | 2003 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.872 | 78 | 2003 | 2019 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.900 | 0.873 | 63 | 2008 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.841 | 44 | 1999 | 2019 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.100 | 0.810 | 42 | 1996 | 2019 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.100 | 0.793 | 29 | 1996 | 2017 | |||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 1.000 | 28 | 2010 | 2019 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.900 | 0.893 | 28 | 2011 | 2019 | ||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.100 | 0.885 | 26 | 1994 | 2019 | |||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.100 | 0.818 | 22 | 2005 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.684 | 19 | 2005 | 2020 | |||||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.900 | 0.875 | 16 | 2009 | 2019 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.100 | 0.929 | 14 | 2005 | 2017 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.100 | 0.727 | 11 | 2004 | 2018 | ||||
|
4 | 0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 | 0.740 | 1.000 | 11 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 | 0.720 | 0.900 | 10 | 2014 | 2019 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.100 | 0.900 | 10 | 2008 | 2019 | |||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.880 | 1.000 | 10 | 2009 | 2018 | |||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.850 | 0.889 | 9 | 2011 | 2017 | ||||
|
7 | 0.807 | 0.080 | 13 | 105467097 | missense variant | G/A | snv | 0.40 | 0.32 | 0.090 | 1.000 | 9 | 2004 | 2018 | |||
|
5 | 0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 | 0.090 | 0.667 | 9 | 2003 | 2016 | |||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.090 | 0.889 | 9 | 2004 | 2017 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.090 | 0.667 | 9 | 2000 | 2015 | ||||
|
3 | 1.000 | 0.040 | 22 | 41191552 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 9 | 2014 | 2019 |