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 | 0.120 | 6 | 160722431 | missense variant | G/T | snv | 8.0E-06 | 0.810 | 1.000 | 9 | 1982 | 2003 | ||||
|
1 | 1.000 | 0.120 | 6 | 160736976 | missense variant | T/C | snv | 0.800 | 1.000 | 8 | 1982 | 1999 | |||||
|
2 | 0.925 | 0.120 | 6 | 160716680 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1982 | 1999 | |||||
|
1 | 1.000 | 0.120 | 6 | 160752240 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 1982 | 1999 | |||
|
2 | 0.925 | 0.160 | 6 | 160706469 | missense variant | A/G | snv | 3.0E-03 | 2.8E-03 | 0.800 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 0.750 | 1.000 | 13 | 1982 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 160738583 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 160731229 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 160716663 | inframe deletion | GAA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 160741417 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 160713018 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 3 | 93877074 | missense variant | T/C | snv | 8.0E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 160741375 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 |