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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.400 | 19 | 45352352 | missense variant | G/A | snv | 6.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 19 | 45364833 | splice donor variant | CACT/- | delins | 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 40133093 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 19 | 45357368 | missense variant | G/C | snv | 1.2E-03 | 4.4E-04 | 0.700 | 1.000 | 6 | 1994 | 2001 | |||
|
1 | 1.000 | 0.080 | 19 | 45352226 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.800 | 1.000 | 6 | 1994 | 2001 | |||
|
3 | 0.882 | 0.160 | 19 | 45368655 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 | 0.800 | 1.000 | 6 | 1994 | 2001 | |||
|
3 | 0.882 | 0.160 | 19 | 45352580 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.800 | 1.000 | 6 | 1994 | 2001 | |||
|
1 | 1.000 | 0.080 | 19 | 45352262 | missense variant | C/G | snv | 1.4E-05 | 0.800 | 1.000 | 6 | 1994 | 2001 | ||||
|
4 | 0.851 | 0.400 | 19 | 45352235 | missense variant | G/A | snv | 2.4E-05 | 9.1E-05 | 0.800 | 1.000 | 6 | 1994 | 2001 | |||
|
1 | 1.000 | 0.080 | 19 | 45364274 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 0.700 | 1.000 | 6 | 1994 | 2001 | |||
|
4 | 0.851 | 0.400 | 19 | 45352801 | missense variant | C/G;T | snv | 1.5E-04; 8.0E-06 | 0.800 | 1.000 | 6 | 1994 | 2001 | ||||
|
3 | 0.882 | 0.160 | 19 | 45352579 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 1994 | 2001 | |||
|
1 | 1.000 | 0.080 | 19 | 45352565 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 1994 | 2001 |