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 | 19 | 33411697 | stop gained | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 19 | 33463987 | stop gained | -/TCACGGTGGGCCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33387892 | missense variant | C/T | snv | 1.8E-05 | 3.5E-05 | 0.800 | 1.000 | 7 | 1990 | 2017 | |||
|
1 | 1.000 | 0.040 | 19 | 33401862 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-05 | 0.800 | 1.000 | 4 | 1990 | 2002 | ||||
|
1 | 1.000 | 0.040 | 19 | 33464060 | missense variant | C/T | snv | 2.4E-05 | 0.800 | 1.000 | 4 | 1990 | 2002 | ||||
|
1 | 1.000 | 0.040 | 19 | 33401855 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 | 0.800 | 1.000 | 4 | 1990 | 2002 | |||
|
1 | 1.000 | 0.040 | 19 | 33463032 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 19 | 33391344 | missense variant | A/C;G | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 19 | 33464006 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33388000 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 33413621 | inframe deletion | TAG/- | delins | 1.6E-04 | 1.3E-04 | 0.700 | 1.000 | 2 | 2004 | 2013 | |||
|
1 | 1.000 | 0.040 | 19 | 33387465 | inframe deletion | CTC/- | delins | 1.4E-05 | 0.700 | 0 |