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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 12 | 21842327 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.240 | 7 | 5529173 | missense variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 7 | 100647014 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.280 | 16 | 89281038 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.280 | 16 | 89270872 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.280 | 16 | 89280330 | stop gained | G/A;C | snv | 5.6E-05 | 0.700 | 0 | |||||||
|
19 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 16 | 89282157 | frameshift variant | -/T | delins | 5.2E-05 | 0.700 | 0 | |||||||||
|
1 | X | 153932422 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | X | 153932325 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 153932075 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 8 | 38138822 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
5 | 1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins | 0.700 | 1.000 | 2 | 2002 | 2009 | |||||
|
4 | 0.882 | 0.120 | 1 | 197125190 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 1 | 197125161 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 197101468 | frameshift variant | CT/- | delins | 2.3E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
8 | 0.851 | 0.120 | X | 153580229 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 8 | 20216454 | missense variant | G/C | snv | 0.700 | 0 |