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 | 0.120 | 16 | 89761961 | frameshift variant | -/A | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89770613 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | 16 | 89745026 | frameshift variant | -/C | delins | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 16 | 89738880 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89810715 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89778826 | frameshift variant | -/CGGGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89810953 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.120 | 16 | 89746836 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89739243 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89775797 | frameshift variant | -/G | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89799192 | frameshift variant | -/GACT | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 89771740 | frameshift variant | -/GCTGCTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89740818 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2005 | 2018 | |||||
|
1 | 1.000 | 0.120 | 16 | 89738884 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89740037 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89761970 | stop gained | -/TCAGGTTGAATTTCCAGCT | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 4 | 1997 | 2015 | |||
|
1 | 1.000 | 0.120 | 16 | 89767218 | frameshift variant | A/- | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 89742869 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 3 | 10063808 | frameshift variant | A/- | del | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 16 | 89782879 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 89767215 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
1 | 1.000 | 0.120 | 16 | 89740044 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1997 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 89740024 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 89740848 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89767208 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2012 |