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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
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 | |||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
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 | |||||||||
|
0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 17 | 7675082 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.710 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.827 | 0.120 | 17 | 7673749 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.200 | 17 | 7673766 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.710 | 0.500 | 2 | 2005 | 2016 | ||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.070 | 1.000 | 7 | 2003 | 2016 |