Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
19 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 14 | 2006 | 2018 | |||||
|
8 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | |||||
|
6 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 0.700 | 1.000 | 13 | 1995 | 2011 | |||
|
2 | 11 | 77156991 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 13 | 1995 | 2011 | |||||
|
5 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 0.700 | 1.000 | 29 | 1986 | 2016 | |||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 0.700 | 1.000 | 26 | 1985 | 2017 | |||||
|
3 | 1.000 | 0.080 | 20 | 34292375 | missense variant | T/C | snv | 8.0E-05 | 9.1E-05 | 0.700 | 1.000 | 5 | 2006 | 2016 | |||
|
4 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1997 | 2015 | |||||
|
4 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 1.000 | 19 | 2003 | 2016 | |||||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 4 | 2010 | 2017 | |||
|
3 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 1 | 160137001 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1992 | 2017 | |||||
|
4 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | ||||||
|
2 | 1 | 215845823 | coding sequence variant | C/- | delins | 0.700 | 1.000 | 15 | 2000 | 2015 | |||||||
|
2 | 1.000 | 1 | 244860382 | missense variant | T/C | snv | 0.700 | 1.000 | 13 | 2010 | 2017 | ||||||
|
1 | 2 | 166228902 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 1995 | 2016 | |||||||
|
2 | 1.000 | 2 | 166051871 | frameshift variant | C/- | delins | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
4 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 0.700 | 1.000 | 22 | 1991 | 2017 | ||||||
|
2 | 1.000 | 3 | 114350821 | frameshift variant | -/C | delins | 0.700 | 1.000 | 7 | 2009 | 2017 | ||||||
|
1 | 4 | 41745807 | stop lost | T/C | snv | 0.700 | 1.000 | 4 | 2003 | 2017 | |||||||
|
3 | 1.000 | 5 | 14359442 | stop gained | C/T | snv | 0.700 | 1.000 | 9 | 1996 | 2017 |