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 | 0.160 | 5 | 132392565 | missense variant | C/G | snv | 1.7E-04 | 8.4E-05 | 0.810 | 1.000 | 7 | 1999 | 2012 | |||
|
1 | 1.000 | 0.160 | 5 | 132378408 | missense variant | G/A;T | snv | 1.2E-05; 5.6E-05 | 0.800 | 1.000 | 25 | 1990 | 2019 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 0.800 | 1.000 | 24 | 1999 | 2017 | ||||
|
1 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 0.800 | 1.000 | 24 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 0.800 | 1.000 | 23 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132384154 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 22 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132392484 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 0.800 | 1.000 | 22 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132392576 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 22 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132384155 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 0.800 | 1.000 | 21 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132390832 | missense variant | C/T | snv | 1.2E-04 | 2.1E-05 | 0.800 | 1.000 | 21 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132392505 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 21 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132392568 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 20 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132390830 | missense variant | C/T | snv | 8.0E-05 | 6.3E-05 | 0.800 | 1.000 | 19 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132385355 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 0.800 | 1.000 | 19 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370336 | missense variant | G/A;T | snv | 3.8E-04 | 0.800 | 1.000 | 19 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132387045 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 19 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132392519 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.800 | 1.000 | 19 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132384281 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132390833 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370015 | missense variant | G/T | snv | 9.6E-05 | 0.800 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132392489 | missense variant | GC/AT | mnv | 0.800 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132389020 | stop lost | T/C | snv | 0.800 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132392598 | missense variant | C/T | snv | 0.800 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132370023 | missense variant | C/G | snv | 1.2E-04 | 4.9E-05 | 0.800 | 1.000 | 5 | 2006 | 2014 | |||
|
1 | 1.000 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 0.800 | 0 |