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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
68 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.900 | 0.989 | 47 | 1984 | 2019 | ||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.870 | 1.000 | 7 | 1986 | 2020 | |||
|
29 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.860 | 1.000 | 6 | 1986 | 2019 | |||
|
6 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.840 | 0.971 | 4 | 1986 | 2019 | |||||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.830 | 1.000 | 3 | 1986 | 2014 | |||||
|
3 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 0.820 | 1.000 | 2 | 1986 | 2016 | |||||
|
9 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 0.810 | 1.000 | 1 | 1994 | 2014 | |||||
|
6 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.810 | 1.000 | 1 | 1986 | 2017 | |||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.810 | 1.000 | 1 | 1986 | 2014 | |||||
|
6 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 0.810 | 1.000 | 1 | 1986 | 2014 | ||||
|
3 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 0.810 | 1.000 | 1 | 1986 | 2017 | |||||
|
8 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 0.810 | 1.000 | 1 | 1986 | 2016 | |||||
|
8 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 0.810 | 1.000 | 1 | 1986 | 2014 | |||||
|
5 | 0.851 | 0.280 | 18 | 31592902 | missense variant | G/A | snv | 5.1E-02 | 5.2E-02 | 0.020 | 0.500 | 2 | 2015 | 2016 | |||
|
4 | 0.851 | 0.240 | 9 | 121302059 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
6 | 0.827 | 0.200 | 18 | 31405413 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
58 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
8 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
5 | 0.851 | 0.160 | 18 | 30217168 | intergenic variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.200 | 19 | 11110753 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 1 | 11858427 | missense variant | C/T | snv | 5.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 18 | 32231169 | intron variant | C/T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 18 | 31590735 | intron variant | A/G | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |