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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 5 | 143281905 | missense variant | A/G | snv | 0.810 | 1.000 | 15 | 1991 | 2019 | |||||
|
1 | 1.000 | 0.080 | 5 | 143310135 | missense variant | C/T | snv | 4.0E-06 | 0.810 | 1.000 | 15 | 1991 | 2016 | ||||
|
2 | 1.000 | 0.080 | 5 | 143282714 | missense variant | C/T | snv | 0.810 | 1.000 | 15 | 1991 | 2016 | |||||
|
2 | 0.925 | 0.160 | 5 | 143295561 | missense variant | T/A | snv | 0.800 | 1.000 | 14 | 1991 | 2016 | |||||
|
2 | 0.925 | 0.160 | 5 | 143300556 | missense variant | A/T | snv | 0.800 | 1.000 | 14 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 143281982 | missense variant | A/C;G | snv | 0.800 | 1.000 | 14 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 143282014 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 143282038 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 143298666 | splice donor variant | CTCA/- | delins | 0.700 | 0 | ||||||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.020 | 0.500 | 2 | 2006 | 2012 | ||||
|
4 | 0.851 | 0.120 | 7 | 99735142 | 5 prime UTR variant | C/T | snv | 9.2E-03 | 3.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |