| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 12 | 88141287 | missense variant | C/A | snv | 0.800 | 1.000 | 6 | 2006 | 2015 | |||||
|
17 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.240 | 12 | 88077227 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.200 | 12 | 88071373 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.280 | 12 | 88121136 | frameshift variant | AT/- | delins | 7.2E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.280 | 12 | 88079112 | stop gained | G/A;C | snv | 2.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 12 | 88089157 | stop gained | G/A | snv | 4.2E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.280 | 12 | 88093904 | frameshift variant | T/-;TT | delins | 1.7E-05 | 9.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.200 | 12 | 88077317 | frameshift variant | GTTT/- | delins | 2.8E-05; 4.6E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.240 | 12 | 88118528 | frameshift variant | TT/-;T;TTT | delins | 7.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 12 | 88111226 | synonymous variant | A/G | snv | 2.1E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.200 | 12 | 88084768 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.200 | 12 | 88111318 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.240 | 12 | 88083076 | frameshift variant | CT/- | delins | 7.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 12 | 88140969 | frameshift variant | GAGT/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.200 | 12 | 88068585 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.240 | 12 | 88084835 | frameshift variant | TTCT/- | delins | 1.0E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.200 | 12 | 88086092 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.240 | 12 | 88111799 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 12 | 88093903 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 |