| 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 | 0.080 | 1 | 197421010 | stop gained | C/A;T | snv | 1.2E-05; 9.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 1 | 197427559 | missense variant | C/A;G;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 1 | 197427615 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 197435539 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 197429555 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 197421284 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 197421845 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 197429611 | missense variant | G/A | snv | 8.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 197421501 | missense variant | T/C | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 197427964 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 197427616 | missense variant | G/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |