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 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.720 | 0.947 | 19 | 1995 | 2014 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.720 | 1.000 | 15 | 1975 | 2017 | |||||
|
3 | 0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins | 0.720 | 0.500 | 2 | 2006 | 2009 | |||||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 39 | 1996 | 2013 | ||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 25 | 1999 | 2014 | ||||
|
2 | 0.925 | 0.160 | 3 | 36996645 | missense variant | A/C | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.160 | 3 | 37040291 | missense variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 3 | 37007002 | stop gained | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.160 | 3 | 36996702 | missense variant | G/A | snv | 0.710 | < 0.001 | 1 | 2009 | 2009 | |||||
|
5 | 0.882 | 0.160 | 3 | 37008904 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 3 | 37047652 | missense variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.160 | 3 | 37020411 | missense variant | A/C | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
7 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.925 | 0.160 | 3 | 37042321 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.882 | 0.200 | 3 | 37047632 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 16 | 1997 | 2018 | |||||
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.700 | 1.000 | 14 | 1992 | 2016 | |||||
|
6 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 13 | 2002 | 2017 | ||||
|
4 | 0.925 | 0.160 | 3 | 37012099 | missense variant | G/A;T | snv | 0.700 | 1.000 | 13 | 1996 | 2016 | |||||
|
4 | 0.925 | 0.160 | 3 | 37028891 | missense variant | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 1996 | 2015 | ||||
|
4 | 0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1999 | 2013 | |||||
|
5 | 0.882 | 0.160 | 3 | 37001051 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 2001 | 2015 | |||||
|
4 | 0.925 | 0.160 | 3 | 37000977 | missense variant | G/A;C | snv | 0.700 | 1.000 | 10 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.160 | 3 | 37000997 | missense variant | A/G | snv | 0.700 | 1.000 | 10 | 1999 | 2010 | |||||
|
3 | 1.000 | 0.160 | 3 | 37014545 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 9 | 1996 | 2016 | |||||
|
2 | 0.925 | 0.160 | 3 | 36993651 | missense variant | T/G | snv | 0.700 | 1.000 | 8 | 1995 | 2007 |