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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.240 | 16 | 56899607 | missense variant | G/A | snv | 0.11 | 8.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 1 | 16048537 | missense variant | G/A | snv | 7.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 16 | 56894558 | missense variant | T/C | snv | 1.2E-04 | 1.7E-04 | 0.800 | 1.000 | 19 | 1996 | 2016 | |||
|
1 | 1.000 | 0.120 | 16 | 56886402 | missense variant | G/A;T | snv | 8.0E-05; 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 18 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56884142 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.810 | 1.000 | 19 | 1996 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 56872737 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56885328 | missense variant | G/T | snv | 0.800 | 1.000 | 18 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 56885307 | missense variant | T/C | snv | 6.1E-06 | 0.820 | 1.000 | 19 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56885276 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56869798 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 56868340 | missense variant | G/A | snv | 4.0E-06 | 4.2E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56893048 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 56879088 | missense variant | G/A;C;T | snv | 5.7E-05; 4.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 56879638 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56879594 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 56870732 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.120 | 16 | 56887967 | missense variant | G/A | snv | 3.7E-04 | 4.1E-04 | 0.800 | 1.000 | 21 | 1996 | 2016 | |||
|
1 | 1.000 | 0.120 | 16 | 56884111 | missense variant | G/A;C | snv | 6.5E-04 | 0.700 | 1.000 | 18 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56886366 | missense variant | C/T | snv | 1.6E-04 | 1.3E-04 | 0.800 | 1.000 | 23 | 1996 | 2017 | |||
|
1 | 1.000 | 0.120 | 16 | 56884058 | missense variant | C/A;G | snv | 8.0E-06 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56872436 | missense variant | C/T | snv | 2.0E-05 | 4.2E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56868317 | missense variant | T/A;C;G | snv | 8.0E-06; 2.4E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56882464 | missense variant | A/G | snv | 0.700 | 1.000 | 17 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 56886384 | missense variant | C/T | snv | 4.0E-05 | 8.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2011 | |||
|
1 | 1.000 | 0.120 | 16 | 56869762 | missense variant | C/A;G;T | snv | 2.7E-04; 4.0E-06; 1.2E-04 | 0.710 | 1.000 | 17 | 1996 | 2015 |