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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 17 | 7669671 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 17 | 7670636 | missense variant | T/A | snv | 2.0E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2013 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.882 | 0.160 | 17 | 7674895 | frameshift variant | AA/-;A | delins |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 17 | 7673260 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.790 | 0.240 | 17 | 7676240 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2010 | 2013 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 0.667 | 3 | 2010 | 2013 |