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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 19 | 11111526 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.080 | 19 | 11111568 | frameshift variant | -/GTGG | delins | 0.700 | 1.000 | 3 | 1992 | 2006 | |||||
|
6 | 0.851 | 0.120 | 19 | 11113313 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 1992 | 2015 | ||||
|
7 | 0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 14 | 1997 | 2017 | |||
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
5 | 0.882 | 0.080 | 19 | 11113420 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1992 | 2012 | |||||
|
7 | 0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2000 | 2002 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113530 | splice region variant | C/G | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2009 | 2014 | |||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
6 | 0.827 | 0.120 | 19 | 11113590 | missense variant | G/A;T | snv | 5.6E-05 | 2.1E-05 | 0.700 | 1.000 | 8 | 2008 | 2016 | |||
|
2 | 0.925 | 0.080 | 19 | 11113599 | frameshift variant | -/C | delins | 0.700 | 1.000 | 2 | 2000 | 2001 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113608 | missense variant | G/A;T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 12 | 1992 | 2017 | |||
|
3 | 0.882 | 0.080 | 19 | 11113624 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113625 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 |