| 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 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 12 | 104321282 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 7 | 150951629 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 17 | 56594609 | stop gained | T/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 17 | 7675084 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.040 | 21 | 32681590 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 16 | 82164193 | missense variant | A/T | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.080 | 17 | 7674968 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 7 | 41964929 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 10258602 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.790 | 0.160 | 14 | 81139828 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.040 | 14 | 81143973 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.742 | 0.200 | 7 | 151576412 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.120 | 21 | 31659783 | missense variant | C/T | snv | 3.6E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.120 | 21 | 31667271 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |