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 | 0.040 | 1 | 244859303 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 244855505 | frameshift variant | AG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 9 | 35092599 | stop gained | G/A;C | snv | 2.8E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 16 | 29813554 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 161882638 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 35092602 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 26797650 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 4 | 39505705 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 1 | 244863648 | frameshift variant | GCCTTCCGCC/- | delins | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 2 | 165310515 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 16 | 78432614 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 72195389 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127673233 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 48905400 | frameshift variant | CACTGCAGCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 49115756 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 166043864 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127682423 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127651622 | inframe deletion | AAA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127678479 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 18604372 | frameshift variant | -/GACC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 33435225 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 49374576 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 3 | 50375876 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 63407136 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 49374416 | missense variant | C/G;T | snv | 0.700 | 0 |