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 | 19 | 40714532 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 19 | 40700388 | inframe insertion | -/CGT | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 19 | 40692240 | missense variant | C/T | snv | 4.1E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 19 | 40700387 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 19 | 40705140 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 19 | 40702636 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 19 | 40692223 | stop gained | C/A;T | snv | 5.2E-05; 2.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 19 | 40700318 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 19 | 40695998 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 19 | 40692308 | frameshift variant | AGGGCCC/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 19 | 40703787 | frameshift variant | A/- | delins | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 |