| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.030 | 1.000 | 3 | 2002 | 2015 | ||||||||
|
0.790 | 0.240 | 19 | 45369135 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.020 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2018 | ||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 121289122 | intron variant | A/G | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 121267901 | intron variant | T/C | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 11 | 67586503 | missense variant | C/G;T | snv | 7.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 12 | 95980836 | missense variant | C/T | snv | 0.85 | 0.86 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.160 | 19 | 10274864 | missense variant | A/G;T | snv | 4.0E-06; 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 22 | 17108356 | missense variant | G/A;C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |