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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.160 | 2 | 25240312 | missense variant | C/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 4 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.160 | 2 | 25241701 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 25247676 | missense variant | A/T | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 25244564 | missense variant | A/T | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 25234313 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2014 | 2017 | ||||
|
15 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 25247079 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 25234307 | missense variant | G/A;C;T | snv | 3.6E-05; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 25240379 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 25235763 | frameshift variant | AT/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 2 | 25244579 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25243967 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25244573 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25245297 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25248157 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25246656 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25247104 | frameshift variant | CTGGTGGAAC/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 25247714 | inframe deletion | CAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25240727 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 2 | 25247685 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25240714 | missense variant | G/A | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 25244613 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |