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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 0 | 2004 | 2013 | ||||
|
3 | 0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.120 | 3 | 38613772 | missense variant | C/T | snv | 1.7E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.790 | 0.120 | 3 | 38604035 | missense variant | G/A;T | snv | 8.4E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 38585926 | frameshift variant | -/AC | delins | 0.700 | 0 | ||||||||
|
10 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 3 | 38550865 | missense variant | A/G | snv | 2.2E-04 | 6.4E-04 | 0.700 | 0 | ||||||
|
2 | 0.882 | 0.120 | 3 | 38613787 | missense variant | G/A | snv | 6.6E-04 | 6.6E-04 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.120 | 3 | 38550500 | stop gained | G/A | snv | 4.5E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 3 | 38614063 | stop gained | A/C;T | snv | 4.7E-06 | 0.700 | 0 |