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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 20 | 32807793 | missense variant | G/A;T | snv | 2.8E-05; 1.2E-05 | 0.800 | 1.000 | 8 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 20 | 32807791 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 20 | 32800916 | missense variant | G/A;T | snv | 0.800 | 1.000 | 7 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 20 | 32800200 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 20 | 32807860 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 7 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 20 | 32789007 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.080 | 20 | 32802416 | missense variant | T/G | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 20 | 32807782 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 20 | 32807847 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 20 | 32805402 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 20 | 32805343 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 20 | 32780411 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 20 | 32807751 | intron variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 20 | 32799322 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 20 | 32800210 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 |