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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74060184 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 74043901 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74045278 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74048146 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74037711 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74042675 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74043124 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74046758 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74051978 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74063229 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74053251 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74056347 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74028228 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74035411 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74043883 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74048195 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74051808 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74054715 | splice acceptor variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 74056270 | splice region variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74061138 | stop gained | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 74063224 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74063370 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74060486 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74051841 | splice donor variant | T/C | snv | 0.700 | 0 |