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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 17 | 43051063 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 13 | 2004 | 2016 | |||||
|
5 | 0.851 | 0.200 | 17 | 43091772 | frameshift variant | GACA/- | delins | 1.4E-05 | 0.700 | 1.000 | 13 | 1994 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 43082403 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 2004 | 2016 | ||||
|
10 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 0.700 | 1.000 | 12 | 2001 | 2017 | ||||
|
5 | 0.851 | 0.200 | 17 | 43115745 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 12 | 2003 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43094515 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 12 | 1994 | 2017 | |||||
|
5 | 0.851 | 0.200 | 17 | 43091903 | frameshift variant | -/T | delins | 8.0E-06 | 0.700 | 1.000 | 12 | 2006 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 43063346 | frameshift variant | CTTT/- | delins | 0.700 | 1.000 | 12 | 1997 | 2017 | |||||
|
7 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 12 | 2001 | 2017 | |||||
|
3 | 0.925 | 0.200 | 17 | 43106453 | splice region variant | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 1997 | 2014 | ||||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.700 | 1.000 | 11 | 2006 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 43051104 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 2004 | 2016 | |||||
|
5 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 0.700 | 1.000 | 11 | 1998 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43092845 | frameshift variant | TT/-;T;TTT | delins | 7.0E-06 | 0.700 | 1.000 | 11 | 1996 | 2017 | ||||
|
4 | 0.925 | 0.200 | 17 | 43094150 | frameshift variant | -/T | delins | 0.700 | 1.000 | 11 | 1996 | 2017 | |||||
|
5 | 0.851 | 0.200 | 17 | 43104260 | stop gained | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2007 | 2018 | ||||
|
3 | 0.925 | 0.120 | 17 | 43063937 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2001 | 2011 | |||||
|
1 | 17 | 43057075 | missense variant | C/G;T | snv | 0.700 | 1.000 | 10 | 1998 | 2011 | |||||||
|
11 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 43091463 | frameshift variant | GATT/- | delins | 1.4E-05 | 0.700 | 1.000 | 10 | 1995 | 2017 | ||||
|
5 | 0.851 | 0.200 | 17 | 43091827 | frameshift variant | TTTAC/- | delins | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43093460 | frameshift variant | TT/-;T | delins | 0.700 | 1.000 | 10 | 1998 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 43091489 | frameshift variant | CT/- | delins | 7.0E-06 | 0.700 | 1.000 | 10 | 1998 | 2016 | ||||
|
5 | 0.882 | 0.200 | 17 | 43094023 | frameshift variant | ATTTA/- | delins | 0.700 | 1.000 | 10 | 1997 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43094685 | frameshift variant | TGAG/- | del | 0.700 | 1.000 | 10 | 1998 | 2017 |