| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.100 | 0.833 | 12 | 2012 | 2018 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.080 | 0.625 | 8 | 2012 | 2018 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.040 | 0.750 | 4 | 2007 | 2019 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.030 | 0.667 | 3 | 2017 | 2018 | ||||||||
|
0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2009 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 0.500 | 2 | 2015 | 2017 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.020 | 0.500 | 2 | 2013 | 2014 | ||||||||
|
0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.720 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.882 | 0.040 | 12 | 68839592 | missense variant | A/G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2004 | ||||||||
|
0.807 | 0.160 | 17 | 75631459 | missense variant | T/A;C | snv | 1.6E-05; 0.26 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2007 | 2009 | |||||||||
|
0.851 | 0.080 | 4 | 87661983 | missense variant | A/G;T | snv | 4.0E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.120 | 17 | 7673749 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.040 | 12 | 68820362 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 1 | 21564100 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |