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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 9 | 96254907 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.800 | 1.000 | 5 | 1998 | 2013 | |||
|
4 | 0.882 | 0.240 | 9 | 96254906 | missense variant | C/T | snv | 8.8E-05 | 8.4E-05 | 0.710 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.240 | 9 | 96240777 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.240 | 9 | 96235548 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.700 | 1.000 | 6 | 1994 | 2016 | ||||
|
3 | 0.882 | 0.240 | 9 | 96240885 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 1994 | 2016 | |||
|
2 | 0.925 | 0.240 | 9 | 96244387 | stop gained | A/T | snv | 2.8E-05 | 3.5E-05 | 0.700 | 1.000 | 6 | 1994 | 2016 | |||
|
3 | 0.925 | 0.240 | 9 | 96251474 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 1.000 | 6 | 1994 | 2016 | ||||
|
1 | 1.000 | 0.240 | 9 | 96245424 | missense variant | T/C;G | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 6 | 1994 | 2016 | ||||
|
2 | 0.925 | 0.240 | 9 | 96254864 | splice region variant | T/A | snv | 3.4E-04 | 3.7E-04 | 0.700 | 1.000 | 4 | 1996 | 2012 | |||
|
1 | 1.000 | 0.240 | 9 | 96244356 | missense variant | T/A;C | snv | 4.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 9 | 96240877 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 9 | 96244393 | missense variant | G/A;T | snv | 2.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 9 | 96298451 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 9 | 96251482 | missense variant | T/C | snv | 3.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.240 | 9 | 96245352 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.240 | 9 | 96298423 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.240 | 9 | 96254924 | missense variant | T/C;G | snv | 1.6E-05; 1.6E-05 | 0.700 | 0 |