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 | 0.080 | 12 | 49951020 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 12 | 49954663 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 12 | 49955438 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 12 | 49954171 | missense variant | C/A;T | snv | 4.1E-06; 2.5E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 49951033 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 12 | 49954168 | missense variant | C/T | snv | 8.3E-06; 4.1E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.200 | 12 | 49954233 | missense variant | G/A | snv | 5.3E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.080 | 12 | 49954317 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 49950894 | missense variant | C/G | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 12 | 49954647 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 12 | 49951129 | missense variant | G/T | snv | 4.1E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.080 | 12 | 49955577 | missense variant | C/G;T | snv | 5.0E-06; 5.5E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 49954672 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 49954163 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.080 | 12 | 49951000 | missense variant | A/C | snv | 2.4E-05 | 0.700 | 0 |