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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 0.800 | 1.000 | 31 | 1997 | 2016 | |||
|
3 | 0.882 | 0.160 | 18 | 23538609 | missense variant | C/A;G;T | snv | 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05 | 0.800 | 1.000 | 30 | 1997 | 2016 | ||||
|
3 | 0.882 | 0.280 | 18 | 23538651 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 28 | 1997 | 2016 | ||||
|
9 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 0.830 | 1.000 | 27 | 1997 | 2017 | |||
|
1 | 1.000 | 0.160 | 18 | 23568876 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 26 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23539878 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 26 | 1997 | 2018 | ||||
|
2 | 0.925 | 0.160 | 18 | 23556358 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.800 | 1.000 | 25 | 1997 | 2016 | |||
|
2 | 0.925 | 0.160 | 18 | 23536811 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.800 | 1.000 | 25 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23543499 | missense variant | C/A | snv | 8.4E-05 | 1.4E-04 | 0.800 | 1.000 | 25 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23539465 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 25 | 1988 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23539418 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 24 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23535479 | missense variant | T/A;C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 24 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23534471 | missense variant | T/C | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 24 | 1997 | 2016 | |||
|
2 | 0.925 | 0.160 | 18 | 23551653 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 24 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23554758 | missense variant | C/T | snv | 0.800 | 1.000 | 24 | 1997 | 2016 | |||||
|
2 | 0.925 | 0.160 | 18 | 23539447 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 23 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 18 | 23534534 | missense variant | C/T | snv | 0.800 | 1.000 | 23 | 1997 | 2016 | |||||
|
1 | 1.000 | 0.160 | 18 | 23544402 | missense variant | G/A | snv | 0.800 | 1.000 | 23 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.160 | 18 | 23535521 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 23 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23541108 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 | 0.800 | 1.000 | 22 | 1997 | 2016 | |||
|
4 | 0.925 | 0.160 | 18 | 23561461 | missense variant | C/T | snv | 1.4E-05 | 0.800 | 1.000 | 22 | 1997 | 2016 | ||||
|
1 | 1.000 | 0.160 | 18 | 23538572 | missense variant | G/A | snv | 6.8E-04 | 6.4E-04 | 0.800 | 1.000 | 21 | 1997 | 2018 | |||
|
1 | 1.000 | 0.160 | 18 | 23536814 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 21 | 1997 | 2016 | ||||
|
7 | 0.851 | 0.280 | 18 | 23554890 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 21 | 1997 | 2016 | |||
|
2 | 1.000 | 0.160 | 18 | 23544424 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1997 | 2016 |