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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
14 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 102504263 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 5 | 2000 | 2016 | |||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2000 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 112839481 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 5 | 112840008 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.120 | 5 | 112839549 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.040 | 19 | 39391457 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2003 | 2012 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2003 | 2012 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2003 | 2012 | |||||
|
9 | 0.776 | 0.280 | 13 | 32338277 | stop gained | G/A;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 2 | 136115639 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 17 | 65535650 | missense variant | G/A | snv | 1.0E-03 | 3.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 5 | 112819224 | frameshift variant | AA/- | del | 0.010 | 1.000 | 1 | 2007 | 2007 |