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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 | 0.800 | 1.000 | 13 | 1996 | 2011 | |||
|
9 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.800 | 1.000 | 10 | 1994 | 2013 | |||
|
3 | 0.925 | 0.160 | 3 | 10146561 | missense variant | G/C;T | snv | 0.800 | 1.000 | 3 | 2003 | 2012 | |||||
|
4 | 0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 | 0.800 | 1.000 | 3 | 2003 | 2012 | ||||
|
2 | 0.925 | 0.040 | 3 | 10149894 | missense variant | C/G | snv | 0.800 | 1.000 | 3 | 2003 | 2012 | |||||
|
4 | 0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv | 0.700 | 1.000 | 17 | 1994 | 2014 | |||||
|
3 | 0.882 | 0.160 | 3 | 10146603 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2014 | ||||
|
2 | 0.925 | 0.160 | 3 | 10146608 | frameshift variant | GC/- | del | 0.700 | 1.000 | 15 | 1994 | 2014 | |||||
|
8 | 0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1994 | 2012 | ||||
|
6 | 0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 13 | 1994 | 2015 | ||||
|
2 | 0.925 | 0.160 | 3 | 10146535 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142109 | missense variant | T/A;C | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142178 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142104 | missense variant | C/G;T | snv | 0.700 | 1.000 | 10 | 1998 | 2016 | |||||
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.700 | 1.000 | 9 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.160 | 3 | 10146638 | splice donor variant | T/C;G | snv | 0.700 | 1.000 | 9 | 1996 | 2014 | |||||
|
7 | 0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1995 | 2014 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142187 | missense variant | G/A;C | snv | 0.700 | 1.000 | 9 | 1994 | 2016 | |||||
|
4 | 0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 1998 | 2014 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142092 | missense variant | G/C;T | snv | 0.700 | 1.000 | 7 | 2000 | 2016 | |||||
|
4 | 0.882 | 0.200 | 3 | 10149790 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2002 | 2010 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142111 | missense variant | G/C;T | snv | 0.700 | 1.000 | 5 | 1995 | 2011 | |||||
|
3 | 0.882 | 0.200 | 3 | 10146528 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2005 | 2013 | |||||
|
3 | 0.925 | 0.160 | 3 | 10149809 | stop gained | C/A;G | snv | 0.700 | 1.000 | 4 | 1999 | 2007 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142071 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 4 | 2002 | 2016 |