| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.090 | 0.889 | 9 | 1999 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.080 | 0.875 | 8 | 1999 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.875 | 8 | 1999 | 2014 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.040 | 1.000 | 4 | 2013 | 2016 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.040 | 1.000 | 4 | 2013 | 2016 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.040 | 1.000 | 4 | 2013 | 2016 | |||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.030 | 1.000 | 3 | 2002 | 2015 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 1.000 | 3 | 2007 | 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 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.020 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 |
|
0.020 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||||
|
0.807 | 0.080 | 19 | 1223124 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 3 | 37048550 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 2 | 47475030 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |