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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 0 | |||||||||
|
5 | 0.882 | 0.200 | 19 | 38499961 | missense variant | T/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
16 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
22 | 0.790 | 0.160 | 18 | 10714931 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
25 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
20 | 0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
10 | 0.882 | 0.120 | 12 | 109798819 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 21 | 45989093 | missense variant | G/A;C | snv | 0.700 | 0 |