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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 6 | 36026129 | upstream gene variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.240 | 6 | 36030611 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 17 | 42691457 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 4 | 2016 | 2018 | ||||
|
5 | 0.851 | 0.080 | 1 | 4034008 | regulatory region variant | C/T | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.240 | 8 | 35265058 | intron variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 17 | 42690894 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
7 | 0.807 | 0.240 | 4 | 53790270 | intron variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 17 | 42690752 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 42689569 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | ||||||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 4 | 2016 | 2018 | |||
|
7 | 0.807 | 0.240 | 6 | 123540174 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 17 | 42685340 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 17 | 42686969 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |