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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 0.700 | 1.000 | 24 | 1996 | 2017 | |||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 1.000 | 23 | 1995 | 2017 | ||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 1.000 | 23 | 1995 | 2017 | |||||
|
4 | 0.882 | 0.200 | 17 | 43063909 | missense variant | C/G;T | snv | 4.8E-05 | 0.700 | 1.000 | 21 | 2000 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 43093975 | frameshift variant | T/- | delins | 0.700 | 1.000 | 21 | 1996 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43092046 | frameshift variant | T/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2017 | |||
|
6 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 19 | 1996 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 43076488 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 19 | 2003 | 2018 | ||||
|
6 | 0.827 | 0.200 | 17 | 43115729 | missense variant | C/A;T | snv | 0.700 | 1.000 | 19 | 2001 | 2017 | |||||
|
11 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 18 | 1995 | 2018 | ||||
|
4 | 0.882 | 0.200 | 17 | 43093056 | frameshift variant | G/- | del | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 18 | 1995 | 2014 | |||
|
7 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 1997 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 43106478 | stop lost | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 16 | 1994 | 2015 | ||||
|
3 | 0.925 | 0.200 | 17 | 43067618 | inframe deletion | ACA/- | delins | 0.700 | 1.000 | 16 | 1996 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43115738 | missense variant | T/A;C | snv | 0.700 | 1.000 | 15 | 2001 | 2015 | |||||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 14 | 2001 | 2017 | ||||
|
6 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 0.700 | 1.000 | 14 | 2005 | 2017 | ||||
|
9 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 0.700 | 1.000 | 14 | 1994 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 43106477 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 14 | 2000 | 2018 | |||||
|
5 | 0.882 | 0.200 | 17 | 43067610 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 14 | 2001 | 2017 | |||||
|
2 | 1.000 | 0.200 | 17 | 43045712 | missense variant | T/C | snv | 0.700 | 1.000 | 14 | 2003 | 2016 | |||||
|
8 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 0.700 | 1.000 | 14 | 1994 | 2016 | ||||
|
5 | 0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 2003 | 2018 | ||||
|
5 | 0.851 | 0.080 | 17 | 43115750 | missense variant | G/C;T | snv | 0.700 | 1.000 | 13 | 2001 | 2015 | |||||
|
4 | 0.882 | 0.200 | 17 | 43049164 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 1998 | 2016 |