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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.280 | 17 | 31327839 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.882 | 0.120 | 17 | 31327718 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 17 | 31325859 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 17 | 31337882 | splice donor variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 17 | 31258405 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 17 | 31261858 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 17 | 31219018 | frameshift variant | AG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 0.700 | 0 |