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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 3 | 30674229 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 1 | 47416805 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 122077382 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 188997727 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 15 | 48421601 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 122070581 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 122075539 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 48430676 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 48468527 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 1 | 47416772 | missense variant | G/A;C | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.040 | 15 | 67181297 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 10 | 88939680 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 1 | 47416725 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 9 | 99147675 | missense variant | T/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 15 | 48534129 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 15 | 48427731 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 122075443 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 5 | 122077861 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 122075482 | missense variant | T/G | snv | 0.700 | 0 |