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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 6151813 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 6 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 6167589 | missense variant | C/T | snv | 1.9E-03 | 2.3E-03 | 0.700 | 1.000 | 6 | 1992 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 6195861 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 6 | 1992 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 6174705 | missense variant | C/A;T | snv | 8.0E-06; 6.0E-05 | 0.700 | 1.000 | 6 | 1992 | 2016 | ||||
|
3 | 0.882 | 0.080 | 6 | 6167531 | missense variant | C/G;T | snv | 4.0E-06; 9.1E-05 | 0.700 | 1.000 | 6 | 1992 | 2016 | ||||
|
3 | 0.882 | 0.080 | 6 | 6151852 | missense variant | T/C | snv | 7.2E-05 | 5.6E-05 | 0.700 | 1.000 | 6 | 1992 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 6167562 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 6145672 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 6222165 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 1996 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 6266615 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 6182121 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 6305487 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 6174823 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 6174640 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 6195859 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 6224710 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 6224808 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 6167549 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 6182094 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 6145708 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 6248382 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 6151874 | stop gained | G/A | snv | 1.8E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 6320575 | intron variant | T/A;C;G | snv | 6.9E-06; 0.87 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 6266614 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 6145707 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 |