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 | 0.800 | 1.000 | 26 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 226890135 | splice donor variant | TGA/- | del | 0.700 | 1.000 | 3 | 2008 | 2014 | |||||
|
3 | 0.882 | 0.080 | 1 | 226885602 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 226885545 | missense variant | A/C | snv | 0.800 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 226883817 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 17 | 1995 | 2014 | ||||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 17 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 226885623 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 226895521 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 1 | 226885570 | missense variant | C/T | snv | 6.8E-04 | 7.2E-04 | 0.800 | 1.000 | 13 | 1995 | 2014 | |||
|
6 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 0.700 | 1.000 | 13 | 1995 | 2014 | |||
|
3 | 0.882 | 0.080 | 1 | 226883748 | missense variant | G/A | snv | 8.6E-03 | 1.4E-02 | 0.700 | 1.000 | 13 | 1995 | 2014 |