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 | 1.000 | 0.120 | 17 | 31258502 | missense variant | G/A;C;T | snv | 0.810 | 1.000 | 22 | 1990 | 2018 | |||||
|
5 | 0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 37 | 1990 | 2016 | ||||
|
10 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv | 0.800 | 1.000 | 34 | 1990 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 31235728 | stop gained | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 34 | 1990 | 2015 | ||||
|
3 | 0.925 | 0.120 | 17 | 31229155 | missense variant | T/C;G | snv | 0.800 | 1.000 | 32 | 1990 | 2018 | |||||
|
1 | 1.000 | 0.120 | 17 | 31223470 | missense variant | A/G | snv | 0.800 | 1.000 | 31 | 1990 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 31225134 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 30 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 31233115 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 29 | 1990 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 31229146 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 28 | 1990 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 31227527 | missense variant | G/C | snv | 0.800 | 1.000 | 28 | 1990 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 31227536 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 28 | 1977 | 2015 | ||||
|
2 | 1.000 | 0.120 | 17 | 31214524 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 27 | 1990 | 2014 | |||
|
1 | 1.000 | 0.120 | 17 | 31181482 | missense variant | T/C | snv | 0.800 | 1.000 | 27 | 1990 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 31221854 | missense variant | T/C | snv | 0.800 | 1.000 | 26 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 31227254 | missense variant | T/C;G | snv | 0.800 | 1.000 | 26 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 31229145 | missense variant | C/T | snv | 0.800 | 1.000 | 26 | 1990 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 31230373 | missense variant | T/C;G | snv | 0.800 | 1.000 | 25 | 1990 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 31258406 | missense variant | A/T | snv | 0.800 | 1.000 | 25 | 1990 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 31229308 | missense variant | T/C | snv | 0.800 | 1.000 | 25 | 1990 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 31337430 | missense variant | C/A | snv | 0.800 | 1.000 | 24 | 1990 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 31214581 | missense variant | T/C | snv | 0.800 | 1.000 | 24 | 1990 | 2014 | |||||
|
3 | 0.925 | 0.120 | 17 | 31201044 | missense variant | T/C;G | snv | 0.800 | 1.000 | 24 | 1990 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 31159050 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 31219072 | missense variant | T/C;G | snv | 0.800 | 1.000 | 24 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 31260403 | missense variant | A/G | snv | 0.800 | 1.000 | 24 | 1990 | 2017 |