| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 17 | 7673608 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.240 | 17 | 7674951 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.200 | 17 | 7674887 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |