| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 7 | 2544920 | missense variant | A/G | snv | 0.800 | 0 | |||||||||
|
3 | 0.882 | 7 | 2543754 | frameshift variant | -/T | delins | 2.5E-04; 2.0E-05 | 2.3E-04 | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||
|
1 | 1.000 | 7 | 2541305 | frameshift variant | CT/- | del | 6.6E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 1.000 | 7 | 2545044 | frameshift variant | -/T | delins | 2.2E-04 | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 1.000 | 7 | 2538678 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
1 | 1.000 | 7 | 2543590 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2539577 | frameshift variant | CGAGGGCGGAGTCCCTCACCTC/GA | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2542171 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2543939 | frameshift variant | -/ATCTTCTC | ins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2547435 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2554327 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2547430 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2542172 | frameshift variant | GA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 2541442 | frameshift variant | C/- | delins | 0.700 | 0 |