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 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 0.820 | 1.000 | 33 | 1986 | 2016 | |||||
|
1 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.840 | 0.971 | 30 | 1986 | 2019 | |||||
|
1 | 0.882 | 0.240 | 18 | 31595209 | missense variant | C/A | snv | 0.800 | 1.000 | 29 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 18 | 31598610 | missense variant | A/G | snv | 0.800 | 1.000 | 29 | 1986 | 2014 | |||||
|
2 | 0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv | 0.800 | 1.000 | 29 | 1986 | 2014 | |||||
|
1 | 1.000 | 0.120 | 18 | 31592914 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 26 | 1986 | 2014 | ||||
|
1 | 1.000 | 0.120 | 18 | 31598649 | missense variant | G/T | snv | 0.800 | 1.000 | 26 | 1986 | 2017 | |||||
|
1 | 1.000 | 0.120 | 18 | 31595230 | missense variant | T/G | snv | 0.800 | 1.000 | 25 | 1986 | 2014 | |||||
|
1 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.830 | 1.000 | 25 | 1986 | 2014 | |||||
|
1 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 0.810 | 1.000 | 25 | 1986 | 2016 | |||||
|
2 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 0.800 | 1.000 | 25 | 1986 | 2015 | |||||
|
2 | 0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.810 | 1.000 | 22 | 1986 | 2017 | |||||
|
1 | 0.882 | 0.160 | 18 | 31598622 | missense variant | C/A | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.810 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 0.810 | 1.000 | 22 | 1986 | 2017 | |||||
|
1 | 0.925 | 0.120 | 18 | 31595191 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 1.000 | 0.120 | 18 | 31595160 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.882 | 0.120 | 18 | 31598581 | missense variant | C/G | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 1.000 | 0.120 | 18 | 31595189 | missense variant | A/C | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 0.882 | 0.160 | 18 | 31593025 | missense variant | G/A;C | snv | 0.800 | 1.000 | 22 | 1986 | 2014 | |||||
|
2 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 0.810 | 1.000 | 22 | 1986 | 2014 | |||||
|
1 | 1.000 | 0.120 | 18 | 31593019 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1986 | 2007 |