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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.900 | 0.989 | 22 | 1984 | 2019 | ||||
|
1 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.870 | 1.000 | 14 | 1986 | 2020 | |||
|
10 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.860 | 1.000 | 17 | 1986 | 2019 | |||
|
1 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.840 | 0.971 | 8 | 1986 | 2019 | |||||
|
1 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.830 | 1.000 | 4 | 1986 | 2014 | |||||
|
1 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 0.820 | 1.000 | 12 | 1986 | 2016 | |||||
|
1 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 0.810 | 1.000 | 4 | 1986 | 2016 | |||||
|
1 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 0.810 | 1.000 | 0 | 1994 | 2014 | |||||
|
1 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.810 | 1.000 | 0 | 1986 | 2017 | |||||
|
1 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.810 | 1.000 | 0 | 1986 | 2014 | |||||
|
1 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 0.810 | 1.000 | 0 | 1986 | 2014 | ||||
|
1 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 0.810 | 1.000 | 0 | 1986 | 2017 | |||||
|
2 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 0.810 | 1.000 | 0 | 1986 | 2014 | |||||
|
2 | 1.000 | 0.120 | 18 | 31595157 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 19 | 1986 | 2015 | |||
|
1 | 1.000 | 0.120 | 18 | 31598610 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1986 | 2014 | |||||
|
1 | 0.882 | 0.240 | 18 | 31595209 | missense variant | C/A | snv | 0.800 | 1.000 | 9 | 1986 | 2015 | |||||
|
1 | 0.882 | 0.160 | 18 | 31595181 | missense variant | A/T | snv | 1.6E-05 | 3.5E-05 | 0.800 | 1.000 | 9 | 1986 | 2017 | |||
|
3 | 0.882 | 0.200 | 18 | 31595169 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1986 | 2016 | ||||
|
2 | 0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1986 | 2014 | |||||
|
1 | 1.000 | 0.120 | 18 | 31592914 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 1986 | 2014 | ||||
|
2 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 18 | 31598649 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 1986 | 2017 | |||||
|
1 | 1.000 | 0.120 | 18 | 31592956 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 3 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.120 | 18 | 31595230 | missense variant | T/G | snv | 0.800 | 1.000 | 3 | 1986 | 2014 | |||||
|
2 | 0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 1986 | 2014 |