| 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 | 0.080 | 15 | 42730632 | missense variant | G/A | snv | 7.6E-05 | 0.800 | 1.000 | 3 | 2002 | 2012 | ||||
|
1 | 1.000 | 0.080 | 15 | 42731275 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 15 | 42730757 | missense variant | G/A | snv | 8.4E-05 | 1.3E-04 | 0.800 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 15 | 42729066 | missense variant | A/T | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.120 | 15 | 42726390 | missense variant | G/A;C;T | snv | 9.1E-06; 1.8E-05 | 0.800 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 15 | 42725550 | missense variant | G/A | snv | 1.6E-05 | 6.3E-05 | 0.800 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 15 | 42730599 | missense variant | G/A;C | snv | 7.2E-05; 1.2E-05 | 0.700 | 1.000 | 3 | 2006 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 42729063 | missense variant | C/G;T | snv | 1.6E-05; 2.8E-05 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 15 | 42726386 | missense variant | T/A;G | snv | 1.3E-05; 4.5E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 15 | 42731206 | splice region variant | C/T | snv | 2.1E-04 | 5.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 42735117 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 42736715 | missense variant | G/A;C | snv | 9.4E-05 | 0.700 | 0 |