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 | 5 | 35044193 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 1.000 | 0.160 | 16 | 16150577 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.160 | 16 | 16182534 | stop gained | C/A;T | snv | 9.1E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.160 | 16 | 16157755 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.160 | 16 | 16150727 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.160 | 16 | 16178955 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16190280 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16214428 | missense variant | G/A | snv | 4.6E-04 | 3.0E-04 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.160 | 16 | 16163159 | missense variant | G/A | snv | 9.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.160 | 16 | 16159541 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 16 | 16178919 | missense variant | C/A;G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.160 | 16 | 16169827 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16202001 | missense variant | C/A;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.160 | 16 | 16187210 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 1.000 | 0.160 | 16 | 16187193 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
5 | 1.000 | 0.160 | 16 | 16182887 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 1.000 | 0.160 | 16 | 16182566 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 1.000 | 0.160 | 16 | 16178935 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.160 | 16 | 16178884 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16169810 | missense variant | G/A;T | snv | 5.7E-06 | 0.700 | 0 | |||||||
|
6 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 16 | 16203408 | splice donor variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.160 | 16 | 16203469 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
9 | 1.000 | 0.160 | 16 | 16221763 | frameshift variant | T/- | del | 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 1.000 | 0.160 | 16 | 16154732 | frameshift variant | G/- | del | 2.8E-05 | 0.700 | 0 |