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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1997 | 2018 | |||||
|
5 | 0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 226885618 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
6 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 1 | 226891284 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 226885596 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 1 | 226883748 | missense variant | G/A | snv | 8.6E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 |