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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 2060655 | intron variant | G/A | snv | 0.700 | 1.000 | 5 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 2057459 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 1999 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 2076482 | intron variant | C/G;T | snv | 3.2E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 16 | 2062982 | stop gained | C/T | snv | 0.700 | 1.000 | 9 | 1999 | 2017 | |||||
|
2 | 1.000 | 0.120 | 16 | 2053384 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1999 | 2010 | |||||
|
3 | 0.882 | 0.200 | 16 | 2064341 | stop gained | C/G;T | snv | 0.700 | 1.000 | 6 | 1996 | 2006 | |||||
|
1 | 1.000 | 0.120 | 16 | 2088286 | stop gained | G/A;T | snv | 0.700 | 1.000 | 5 | 1997 | 2015 | |||||
|
3 | 0.882 | 0.200 | 16 | 2072879 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 2080209 | stop gained | C/A;T | snv | 0.700 | 1.000 | 3 | 1999 | 2010 | |||||
|
1 | 1.000 | 0.120 | 16 | 2072251 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2007 | |||||
|
2 | 1.000 | 0.120 | 16 | 2080179 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2006 | |||||
|
1 | 1.000 | 0.120 | 16 | 2079159 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.120 | 16 | 2060805 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.120 | 16 | 2072337 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2017 | |||||
|
2 | 0.925 | 0.120 | 16 | 2081734 | stop gained | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.120 | 16 | 2083810 | stop gained | C/A;T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2017 | |||
|
1 | 1.000 | 0.120 | 9 | 132911103 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 16 | 2079615 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 16 | 2055488 | stop gained | -/A | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.120 | 16 | 2053362 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 2056677 | stop gained | -/A | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.120 | 16 | 2064275 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 16 | 2079164 | stop gained | C/A;G;T | snv | 4.0E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.120 | 16 | 2087907 | stop gained | C/A;G;T | snv | 4.0E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 16 | 2088236 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 |