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 | 0.120 | 19 | 11576839 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 11576376 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 11576780 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.800 | 1.000 | 2 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 11576335 | missense variant | C/G;T | snv | 8.1E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 11575204 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 11575197 | missense variant | A/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 11575250 | stop gained | G/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 11577187 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 11576311 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 11575155 | inframe deletion | TAG/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 11575198 | splice acceptor variant | TGAAATTCCCAGCCCCACT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 11575171 | frameshift variant | -/G | delins | 4.0E-06; 4.0E-06 | 0.700 | 0 |