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 | 0.240 | 12 | 88083076 | frameshift variant | CT/- | delins | 7.1E-06 | 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 | |||
|
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 | 88071373 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 0.700 | 0 | |||||||
|
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 | 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 | 88111226 | synonymous variant | A/G | snv | 2.1E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.200 | 12 | 88071860 | stop gained | G/A;T | snv | 2.1E-05; 5.5E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.280 | 12 | 88079112 | stop gained | G/A;C | snv | 2.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.280 | 12 | 88125357 | stop gained | G/A | snv | 3.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
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 | |||
|
8 | 0.776 | 0.280 | 12 | 88086038 | splice donor variant | C/T | snv | 5.4E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
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 | |||
|
5 | 0.827 | 0.280 | 12 | 88136697 | frameshift variant | ATCT/- | delins | 5.6E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
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 | |||
|
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 | |||
|
4 | 0.851 | 0.240 | 12 | 88059897 | splice donor variant | C/T | snv | 1.2E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 12 | 88060951 | missense variant | A/G | snv | 7.6E-03 | 5.1E-03 | 0.700 | 0 |