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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 43049129 | frameshift variant | G/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 16 | 23635054 | missense variant | C/A;T | snv | 4.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 43106526 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 13 | 32326555 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 17033077 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 23603592 | missense variant | A/G;T | snv | 1.7E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 16 | 23635383 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 7676167 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 9 | 98831929 | missense variant | C/T | snv | 2.7E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.200 | 17 | 43124096 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.200 | 13 | 32316461 | start lost | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.280 | 11 | 108327665 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
10 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.020 | 0.500 | 2 | 2005 | 2006 | |||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 0 |