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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 60371842 | missense variant | T/C | snv | 8.0E-05 | 1.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60371529 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60371538 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60371827 | missense variant | C/T | snv | 5.4E-04 | 3.0E-04 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60372061 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 60371694 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60372240 | missense variant | T/A | snv | 6.8E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60372117 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 18 | 60371857 | missense variant | G/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 18 | 60371808 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60371596 | missense variant | C/T | snv | 4.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60371400 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.080 | 2 | 166048938 | inframe deletion | AAT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 12381349 | missense variant | C/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 65636397 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60371812 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60371514 | frameshift variant | CA/-;CACA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 50236836 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 74006202 | missense variant | C/T | snv | 1.0E-02 | 3.9E-02 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 |