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 | 0.040 | 1 | 9982327 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 9982699 | stop lost | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 9972098 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 9975672 | missense variant | C/T | snv | 4.0E-06; 8.4E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 9982613 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 9972132 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 9982318 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 9982312 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 9982678 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 9982393 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 9975681 | missense variant | A/G | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 4 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 9982403 | missense variant | A/C;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 9975675 | missense variant | G/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 9982577 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 4 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 9975637 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 9975769 | missense variant | T/G | snv | 1.2E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 9982480 | missense variant | C/T | snv | 3.6E-05 | 3.5E-05 | 0.800 | 1.000 | 4 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 1 | 9982368 | stop gained | G/A | snv | 4.0E-05 | 1.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 9982571 | missense variant | G/A;T | snv | 4.4E-05 | 0.800 | 1.000 | 4 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 9982570 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 9972110 | missense variant | G/A | snv | 1.6E-04 | 5.6E-04 | 0.700 | 0 | ||||||
|
11 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 0.810 | 1.000 | 12 | 2012 | 2018 |