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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 56870699 | missense variant | T/C | snv | 1.6E-05 | 2.8E-05 | 0.800 | 1.000 | 3 | 2008 | 2016 | |||
|
1 | 1.000 | 0.120 | 16 | 56887937 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 0.800 | 0 | ||||||
|
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 | ||||
|
1 | 1.000 | 0.120 | 16 | 56882492 | missense variant | C/T | snv | 6.0E-05 | 7.7E-05 | 0.710 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.925 | 0.160 | 16 | 56879168 | missense variant | A/C;G;T | snv | 4.0E-06; 1.6E-04 | 0.710 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 16 | 56880142 | missense variant | G/A | snv | 2.5E-05 | 7.0E-06 | 0.710 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 16 | 56885358 | missense variant | A/G | snv | 6.3E-06; 1.3E-05 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 | 56868355 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 18 | 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 | 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 | 56879638 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
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 | 56893003 | missense variant | T/A;C | snv | 4.0E-04; 1.6E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56872459 | missense variant | C/A;G;T | snv | 4.0E-06; 7.6E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56902452 | missense variant | C/T | snv | 6.8E-05 | 3.6E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56887998 | missense variant | C/T | snv | 1.1E-04 | 1.7E-04 | 0.700 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56899556 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56880205 | missense variant | C/A;T | snv | 7.5E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56894608 | missense variant | G/A | snv | 8.4E-05 | 3.5E-05 | 0.700 | 1.000 | 17 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 56879630 | missense variant | C/G | snv | 8.0E-06 | 0.700 | 1.000 | 17 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 56887932 | missense variant | G/A;T | snv | 8.0E-06; 1.0E-04 | 0.700 | 1.000 | 17 | 1996 | 2015 |