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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 11106631 | missense variant | A/C | snv | 0.700 | 1.000 | 10 | 2000 | 2013 | |||||
|
5 | 0.882 | 0.080 | 19 | 11102788 | splice donor variant | T/A;C | snv | 0.700 | 1.000 | 9 | 1995 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 11107486 | missense variant | C/G | snv | 0.700 | 1.000 | 8 | 1992 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 11105457 | missense variant | G/A;C | snv | 0.700 | 1.000 | 7 | 1998 | 2016 | |||||
|
3 | 0.882 | 0.080 | 19 | 11107512 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1997 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 11116213 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1999 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113420 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1992 | 2012 | |||||
|
2 | 0.925 | 0.080 | 19 | 11120442 | frameshift variant | -/C | delins | 7.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2016 | ||||
|
5 | 0.882 | 0.080 | 19 | 11102742 | missense variant | A/C;G | snv | 0.700 | 1.000 | 5 | 1992 | 2017 | |||||
|
5 | 0.882 | 0.080 | 19 | 11116888 | missense variant | G/A;T | snv | 0.710 | 1.000 | 5 | 1992 | 2017 | |||||
|
6 | 0.851 | 0.160 | 19 | 11100286 | stop gained | G/A;T | snv | 0.700 | 1.000 | 4 | 1992 | 2015 | |||||
|
2 | 0.925 | 0.080 | 19 | 11105279 | stop gained | C/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2015 | |||||
|
7 | 0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2000 | 2002 | |||||
|
3 | 0.882 | 0.080 | 19 | 11111568 | frameshift variant | -/GTGG | delins | 0.700 | 1.000 | 3 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113599 | frameshift variant | -/C | delins | 0.700 | 1.000 | 2 | 2000 | 2001 | |||||
|
4 | 0.882 | 0.080 | 19 | 11107454 | frameshift variant | AA/- | delins | 0.700 | 1.000 | 2 | 2002 | 2012 | |||||
|
5 | 0.882 | 0.080 | 19 | 11110765 | splice donor variant | CGAAGGTG/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 19 | 11123291 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 19 | 11120156 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 19 | 11116900 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 5 | 1994 | 2019 | ||||
|
3 | 0.882 | 0.080 | 19 | 11107394 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.882 | 0.080 | 19 | 11102787 | splice donor variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2012 | ||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 8 | 1990 | 2017 | ||||
|
6 | 0.851 | 0.080 | 19 | 11107484 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 1985 | 2015 |