| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.903 | 31 | 1997 | 2015 | |||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.100 | 0.895 | 19 | 2000 | 2015 | ||||||||
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.900 | 1.000 | 16 | 1997 | 2019 | ||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.100 | 1.000 | 15 | 1999 | 2019 | |||||||||
|
0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 |
|
0.860 | 0.900 | 10 | 2011 | 2019 | ||||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 1.000 | 10 | 1999 | 2019 | ||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.730 | 1.000 | 8 | 2012 | 2019 | ||||||||
|
0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 |
|
0.060 | 1.000 | 6 | 2014 | 2019 | |||||||
|
0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 |
|
0.060 | 1.000 | 6 | 1999 | 2019 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.060 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.050 | 0.600 | 5 | 2003 | 2017 | ||||||||
|
0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 |
|
0.830 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.740 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
1.000 | 0.120 | 10 | 69485520 | intron variant | T/C | snv | 8.5E-02 |
|
0.710 | 0.800 | 5 | 2015 | 2020 | ||||||||
|
0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 |
|
0.720 | 0.750 | 4 | 2015 | 2020 | |||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.820 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 |
|
0.030 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 |
|
0.030 | 0.667 | 3 | 2003 | 2013 | |||||||
|
0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 |
|
0.030 | 1.000 | 3 | 2009 | 2017 | |||||||
|
0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
1 | 169522317 | intron variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||||
|
4 | 186264231 | upstream gene variant | A/T | snv | 0.36 |
|
0.810 | 1.000 | 3 | 2011 | 2014 | ||||||||||
|
4 | 186277851 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||||
|
1 | 169542517 | missense variant | T/C | snv | 0.28 | 0.24 |
|
0.710 | 1.000 | 3 | 2015 | 2019 |