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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 | 0.800 | 1.000 | 4 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 72358930 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2015 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 72294395 | missense variant | T/A;C | snv | 1.6E-05; 3.6E-05 | 0.800 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 72295567 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 72293554 | missense variant | C/A | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 | 0.700 | 1.000 | 4 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 72358942 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 72293576 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 72294125 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 72358997 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 72302328 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 72294047 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 72329709 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 72294410 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 72358940 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 72295612 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 72293553 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 72293446 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 72302299 | splice region variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 72372958 | stop gained | C/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 0 |