| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 1.000 | 3 | 2007 | 2018 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2016 | |||||||
|
1.000 | 0.040 | 1 | 153561551 | missense variant | C/T | snv | 7.1E-02 | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 162772032 | missense variant | G/A | snv | 7.8E-04 | 2.9E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 1 | 3682336 | 5 prime UTR variant | G/A;T | snv | 0.20; 3.3E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 1211863 | intron variant | A/C | snv | 8.1E-02 | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 1 | 15525539 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 1 | 153563811 | stop gained | G/A | snv | 2.2E-04 | 3.4E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 47475030 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 2 | 47403398 | synonymous variant | G/A;C;T | snv | 4.5E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 2 | 47466820 | intron variant | G/A;T | snv | 0.34; 4.0E-06 | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 47475228 | missense variant | G/A | snv | 1.3E-04 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |