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 | 0.080 | 2 | 127426180 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 127426208 | missense variant | G/A;T | snv | 9.5E-05; 8.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 127427219 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 127428761 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.160 | 2 | 127426114 | missense variant | C/T | snv | 7.5E-04 | 3.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 2 | 127428797 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.040 | 1.000 | 4 | 1999 | 2017 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2005 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2005 | |||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
2 | 0.925 | 0.080 | 1 | 173914725 | missense variant | C/T | snv | 9.5E-05 | 1.7E-04 | 0.010 | 1.000 | 1 | 1990 | 1990 | |||
|
5 | 0.851 | 0.200 | 14 | 94378561 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
5 | 0.827 | 0.200 | 2 | 127428485 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 2 | 127428660 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 |