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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.800 | 1.000 | 22 | 1989 | 2017 | |||
|
9 | 0.776 | 0.120 | 2 | 21006289 | missense variant | G/A | snv | 1.7E-04 | 6.3E-05 | 0.700 | 1.000 | 2 | 2012 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 21043911 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21043907 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21019101 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21012278 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21004677 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21002271 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21006686 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21006144 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21012217 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21002308 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 21007693 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21002202 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21002226 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21002287 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21002292 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21002296 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21022861 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21025071 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21006060 | missense variant | T/C | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 2 | 21001940 | inframe deletion | CTG/- | delins | 2.2E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21005391 | missense variant | G/A;T | snv | 1.7E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21006088 | missense variant | A/C;G;T | snv | 6.4E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21006100 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 |