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 | 11 | 128839644 | missense variant | G/C | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 1996 | 1998 | ||||
|
1 | 1.000 | 0.120 | 11 | 128839660 | missense variant | G/A;C | snv | 1.6E-05 | 0.800 | 1.000 | 3 | 1996 | 1998 | ||||
|
1 | 1.000 | 0.120 | 11 | 128839979 | missense variant | C/G | snv | 0.800 | 1.000 | 3 | 1996 | 1998 | |||||
|
2 | 1.000 | 0.120 | 11 | 128839929 | missense variant | A/G;T | snv | 0.800 | 1.000 | 3 | 1996 | 1998 | |||||
|
1 | 1.000 | 0.120 | 11 | 128839709 | missense variant | C/A;T | snv | 0.800 | 1.000 | 3 | 1996 | 1998 | |||||
|
1 | 1.000 | 0.120 | 11 | 128839801 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 3 | 1996 | 1998 | ||||
|
1 | 1.000 | 0.120 | 11 | 128840004 | missense variant | C/A | snv | 2.8E-05 | 0.700 | 1.000 | 3 | 1996 | 1998 | ||||
|
1 | 1.000 | 0.120 | 11 | 128839972 | missense variant | G/A;T | snv | 2.4E-05; 1.2E-05 | 0.700 | 1.000 | 3 | 1996 | 1998 | ||||
|
1 | 1.000 | 0.120 | 11 | 128839231 | missense variant | A/G | snv | 7.3E-03 | 7.8E-03 | 0.700 | 1.000 | 3 | 1996 | 1998 | |||
|
1 | 1.000 | 0.120 | 11 | 128840064 | stop gained | G/A;C | snv | 2.7E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 128839982 | stop gained | T/A;C | snv | 4.4E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 128839289 | stop gained | G/A | snv | 8.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 128839357 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 128839936 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |