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 | 0.040 | 3 | 69959310 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 69964880 | missense variant | T/C | snv | 2.4E-05 | 3.5E-05 | 0.800 | 1.000 | 0 | 1995 | 2017 | |||
|
12 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.700 | 1.000 | 5 | 2011 | 2016 | |||
|
3 | 0.925 | 0.160 | 3 | 69959325 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 69939164 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 37973805 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 37978134 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 37983382 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 37983723 | frameshift variant | CTCCGAGCCCACGGGGCTC/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.120 | 3 | 69956460 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 69951870 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 69956469 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 69956454 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.040 | 3 | 69956496 | stop gained | G/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 3 | 69936756 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69941299 | missense variant | TT/CC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69949049 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | 3 | 69951856 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69951884 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69956534 | splice region variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69959386 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 3 | 69956531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.280 | 3 | 69959280 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69964874 | frameshift variant | G/- | delins | 0.700 | 0 |