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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 0.710 | 1.000 | 3 | 2009 | 2017 | |||||
|
3 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 0.925 | 0.160 | 1 | 162535706 | regulatory region variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | X | 32448611 | stop gained | C/A | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32816495 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32699252 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31774193 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32809512 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32485053 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 31479104 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32501752 | splice region variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32461403 | intron variant | T/C;G | snv | 5.7E-03 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31182849 | frameshift variant | CATCCAGTCT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32438372 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 31261301 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32849821 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31178789 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 17 | 80113242 | missense variant | G/A;C | snv | 5.6E-02; 4.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |