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 | 0.160 | 3 | 36993631 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 37048538 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 36993620 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37000976 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37050552 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 3 | 36996702 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 37000992 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 37014509 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 3 | 37025895 | stop gained | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 3 | 37025979 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 3 | 37017521 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37020380 | stop gained | G/A;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37048527 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37006992 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37047595 | missense variant | C/G;T | snv | 1.6E-04; 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 37008824 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37014493 | missense variant | T/C;G | snv | 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 36996693 | missense variant | A/G | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 37028829 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37020336 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37011851 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37020402 | missense variant | T/A;C | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37028795 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 |