| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv |
|
0.850 | 1.000 | 16 | 1998 | 2017 | |||||||||
|
0.827 | 0.080 | 4 | 54285926 | missense variant | A/T | snv |
|
0.800 | 0.952 | 21 | 2003 | 2018 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 15 | 2002 | 2019 | ||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.760 | 1.000 | 8 | 2001 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 |
|
0.750 | 1.000 | 12 | 2004 | 2019 | ||||||||
|
0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv |
|
0.740 | 0.875 | 8 | 1999 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv |
|
0.730 | 0.900 | 10 | 2005 | 2019 | |||||||||
|
0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv |
|
0.730 | 1.000 | 9 | 1999 | 2018 | |||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.730 | 1.000 | 4 | 2006 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv |
|
0.720 | 1.000 | 7 | 2003 | 2014 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 5 | 2005 | 2014 | |||||||||
|
4 | 54277981 | missense variant | C/A;G | snv |
|
0.710 | 1.000 | 3 | 2003 | 2006 | |||||||||||
|
1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv |
|
0.710 | 1.000 | 3 | 2007 | 2013 | |||||||||
|
0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 17 | 2005 | 2018 | ||||||||
|
0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 16 | 2003 | 2016 | ||||||||
|
0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 11 | 2003 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 10 | 2003 | 2015 | |||||||
|
0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 |
|
0.700 | 1.000 | 10 | 2006 | 2013 | ||||||||
|
0.851 | 0.120 | 1 | 17033078 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 10 | 2001 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 10 | 2003 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 10 | 1992 | 2013 | |||||||||
|
0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv |
|
0.700 | 1.000 | 9 | 2003 | 2013 | |||||||||
|
0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 8 | 2006 | 2012 | |||||||||
|
0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 7 | 2006 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 161314406 | start lost | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 7 | 2000 | 2013 |