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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 2089813 | missense variant | G/A | snv | 3.7E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 16 | 2089957 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2108418 | missense variant | G/A | snv | 2.3E-03 | 2.2E-03 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
2 | 1.000 | 0.120 | 16 | 2108569 | missense variant | G/A;T | snv | 1.1E-02 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2106587 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2106622 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2106665 | missense variant | G/A | snv | 8.4E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2108743 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2106475 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2106459 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2106619 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2108253 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2106560 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2108700 | frameshift variant | ACCACGTCCACCTCCGGCTCCCGGCAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2107963 | missense variant | G/A | snv | 3.3E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 2106599 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2135508 | missense variant | G/A | snv | 6.3E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2090191 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2090717 | missense variant | C/A;T | snv | 6.1E-05; 1.2E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2090418 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090179 | missense variant | G/A;T | snv | 9.3E-04; 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2090776 | stop gained | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 16 | 2090140 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090781 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2091571 | frameshift variant | TG/- | delins | 0.700 | 0 |