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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 3 | 132665830 | start lost | A/G | snv | 1.0E-04 | 1.4E-05 | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 3 | 132672143 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2016 | 2016 | |||||
|
1 | 1.000 | 3 | 132676476 | missense variant | G/T | snv | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 3 | 132670973 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 3 | 132665825 | missense variant | G/A | snv | 0.800 | 0 | |||||||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 132675290 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 132675345 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 132665842 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 132675339 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 132675627 | frameshift variant | -/C | ins | 0.700 | 0 |