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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 14 | 102033157 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 16 | 89932649 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | X | 111410209 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | X | 154350030 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 102400738 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | X | 111410166 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111410134 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410089 | missense variant | T/A;C | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 111410094 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111301745 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410284 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410275 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111410271 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410269 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111410249 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410245 | frameshift variant | TCTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410232 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410229 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410217 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410214 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410212 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410208 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410204 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410189 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410181 | missense variant | G/A | snv | 0.700 | 0 |