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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 11 | 112086921 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 10146613 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 112094805 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 112094882 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 1 | 10365476 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 96265399 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 96265379 | start lost | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96265306 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 2 | 96265262 | frameshift variant | ACAG/- | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 2 | 96265232 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 96254998 | splice acceptor variant | C/A;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 96254974 | frameshift variant | TCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96254832 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 2 | 96254117 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96254078 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 96254050 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96253884 | frameshift variant | -/TCTGAGAGCAGCTC | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 0.700 | 0 |