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 |
|
0.080 | 1.000 | 8 | 2008 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.050 | 1.000 | 5 | 2005 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2018 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.160 | 17 | 7670711 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
17 | 7670705 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 7669655 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
17 | 7675224 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 |