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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.900 | 1.000 | 23 | 2005 | 2018 | |||||
|
36 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.840 | 1.000 | 14 | 1990 | 2019 | |||||
|
30 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.830 | 1.000 | 7 | 2005 | 2017 | |||||
|
2 | 0.851 | 0.200 | 11 | 534259 | stop gained | G/A;T | snv | 1.2E-05 | 0.820 | 1.000 | 2 | 2007 | 2015 | ||||
|
1 | 0.851 | 0.160 | 11 | 533883 | missense variant | G/A | snv | 0.810 | 1.000 | 7 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 533553 | missense variant | T/C | snv | 0.810 | 1.000 | 4 | 2005 | 2018 | |||||
|
23 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2005 | 2017 | |||||
|
7 | 0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2005 | 2014 | |||||
|
7 | 0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv | 0.800 | 1.000 | 0 | 2005 | 2010 | |||||
|
1 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.750 | 1.000 | 2 | 2006 | 2019 | |||||
|
2 | 0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1982 | 2018 | |||||
|
1 | 1.000 | 0.080 | 11 | 533309 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 534210 | coding sequence variant | -/CTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 534212 | inframe insertion | -/TCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 533848 | inframe insertion | -/GTCCCGCATGGCGCTGTACTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 533880 | missense variant | GC/AG | mnv | 0.700 | 0 |