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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2014 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 33 | 1997 | 2017 | |||||
|
4 | 0.925 | 0.160 | 2 | 47475051 | inframe deletion | AAT/- | del | 4.0E-06 | 0.700 | 1.000 | 19 | 1996 | 2017 | ||||
|
5 | 0.882 | 0.160 | 2 | 47476399 | stop gained | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 15 | 1997 | 2013 | |||||
|
6 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 0.720 | 1.000 | 13 | 2001 | 2019 | ||||
|
4 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 2003 | 2017 | |||||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 12 | 2002 | 2018 | |||||
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 1.000 | 12 | 2006 | 2017 | ||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.760 | 1.000 | 12 | 2004 | 2012 | ||||
|
6 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 2003 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 11 | 2005 | 2016 | ||||
|
6 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.710 | 1.000 | 11 | 1994 | 2012 | ||||
|
6 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 1998 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 47445546 | splice donor variant | AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/- | delins | 0.700 | 1.000 | 8 | 2003 | 2013 | |||||
|
4 | 0.925 | 0.160 | 2 | 47414421 | splice region variant | A/G;T | snv | 3.3E-05 | 0.700 | 1.000 | 8 | 1996 | 2012 | ||||
|
2 | 0.925 | 0.160 | 2 | 47476382 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 1999 | 2018 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806606 | frameshift variant | CAAG/- | delins | 0.700 | 1.000 | 8 | 2003 | 2015 | |||||
|
3 | 0.882 | 0.160 | 2 | 47410245 | missense variant | T/C;G | snv | 0.700 | 1.000 | 8 | 2005 | 2011 | |||||
|
5 | 0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 8 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.160 | 2 | 47445644 | stop gained | T/C;G | snv | 0.700 | 1.000 | 8 | 1994 | 2005 | |||||
|
4 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 0.700 | 1.000 | 8 | 1999 | 2010 | |||||
|
6 | 0.827 | 0.240 | 2 | 47408486 | inframe deletion | GAAGTT/- | delins | 0.700 | 1.000 | 7 | 2000 | 2019 |