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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 11 | 102223635 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 19 | 10707507 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 120968809 | missense variant | C/T | snv | 3.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
2 | 0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.120 | 22 | 28694059 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.160 | 22 | 28695709 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 22 | 28695858 | missense variant | G/A | snv | 4.8E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 1.000 | 6 | 1999 | 2017 | |||
|
9 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 0.710 | 1.000 | 4 | 2001 | 2012 | ||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.716 | 0.440 | 10 | 51299646 | non coding transcript exon variant | T/C | snv | 0.25 | 0.24 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 0.700 | 0 | ||||||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 7670643 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 17 | 7670649 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 7670658 | stop gained | TGAGTTCCA/C | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 17 | 7670669 | missense variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1990 | 2017 |