Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.854 | 123 | 1997 | 2019 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 0.869 | 84 | 2003 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.872 | 78 | 2003 | 2019 | ||||||||
|
0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv |
|
0.900 | 0.873 | 62 | 2008 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.841 | 44 | 1999 | 2019 | |||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.100 | 0.810 | 42 | 1996 | 2019 | |||||||
|
0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 |
|
0.100 | 0.793 | 29 | 1996 | 2017 | |||||||
|
0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 |
|
0.900 | 0.893 | 26 | 2011 | 2019 | ||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.100 | 0.885 | 26 | 1994 | 2019 | |||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 1.000 | 25 | 2010 | 2019 | ||||||||
|
0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 |
|
0.100 | 0.818 | 22 | 2005 | 2018 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.684 | 19 | 2005 | 2020 | |||||||||
|
0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 |
|
0.900 | 0.875 | 14 | 2009 | 2019 | ||||||||
|
0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.100 | 0.929 | 14 | 2005 | 2017 | |||||||
|
0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 |
|
0.100 | 0.727 | 11 | 2004 | 2018 | ||||||||
|
0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv |
|
0.100 | 0.900 | 10 | 2008 | 2019 | |||||||||
|
0.807 | 0.080 | 13 | 105467097 | missense variant | G/A | snv | 0.40 | 0.32 |
|
0.090 | 1.000 | 9 | 2004 | 2018 | |||||||
|
0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 |
|
0.090 | 0.667 | 9 | 2003 | 2016 | |||||||
|
0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 |
|
0.090 | 0.889 | 9 | 2004 | 2017 | ||||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.090 | 0.667 | 9 | 2000 | 2015 | ||||||||
|
0.882 | 0.120 | 22 | 20140031 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.080 | 0.750 | 8 | 2004 | 2010 | ||||||||
|
0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 |
|
0.080 | 1.000 | 8 | 1998 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 |
|
0.080 | 0.875 | 8 | 2005 | 2018 | ||||||||
|
0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv |
|
0.880 | 1.000 | 8 | 2009 | 2018 | |||||||||
|
0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 |
|
0.070 | 1.000 | 7 | 2007 | 2019 |