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 | 1 | 3707593 | missense variant | C/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.120 | 2 | 201209388 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.120 | 1 | 46272758 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 201209189 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 7 | 148811650 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.160 | 3 | 49375577 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 3 | 49375465 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.160 | 10 | 133527063 | non coding transcript exon variant | A/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.200 | 3 | 49375576 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.200 | 8 | 127738435 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.925 | 0.240 | 7 | 5999182 | stop gained | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.790 | 0.240 | 15 | 44715641 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |