| 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 | 15 | 51002562 | missense variant | G/A | snv | 4.0E-05 | 1.4E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50999099 | missense variant | C/T | snv | 5.1E-04 | 2.6E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50949933 | missense variant | C/T | snv | 2.0E-04 | 9.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50941475 | missense variant | C/T | snv | 4.0E-06 | 5.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50934686 | missense variant | A/G | snv | 1.9E-04 | 9.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50958567 | missense variant | A/G;T | snv | 2.4E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 15 | 51002514 | missense variant | T/G | snv | 7.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 15 | 50997380 | missense variant | G/A | snv | 2.5E-05 | 1.7E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50915511 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 15 | 50958492 | missense variant | G/A | snv | 8.2E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 15 | 50929079 | missense variant | C/A | snv | 3.6E-04 | 5.1E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 50993510 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 50968278 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 51001168 | missense variant | A/G;T | snv | 9.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 50997692 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 50941750 | missense variant | A/G | snv | 0.700 | 0 |