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 | 0.827 | 0.120 | 1 | 12002033 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2006 | 2011 | |||||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 1 | 29196234 | stop gained | A/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 29216612 | frameshift variant | TGAT/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 29200574 | missense variant | G/A | snv | 6.4E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 1 | 29196235 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 29202004 | missense variant | C/T | snv | 7.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.080 | 2 | 240788109 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 2 | 240786339 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.080 | 2 | 240785066 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.160 | 2 | 240775863 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 2 | 240783791 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2003 | 2011 | |||||
|
2 | 0.925 | 0.080 | 3 | 193643005 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.080 | 3 | 193666331 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 193643579 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 3 | 193614929 | missense variant | A/G | snv | 4.0E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 3 | 100728759 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.790 | 0.360 | 4 | 6301846 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
7 | 0.807 | 0.360 | 4 | 6302385 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |