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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.120 | 7 | 50402283 | 3 prime UTR variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||
|
9 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 7 | 143267618 | missense variant | C/A | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 8 | 129181858 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.160 | 8 | 103141321 | non coding transcript exon variant | G/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2013 | 2018 | |||||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2013 | 2018 | |||||
|
9 | 0.776 | 0.280 | 10 | 22550699 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2013 | 2018 | |||||
|
2 | 0.925 | 0.120 | 10 | 124604740 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 10 | 62007470 | intron variant | G/A | snv | 0.15 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 10 | 61925395 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
10 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 10 | 61961417 | intron variant | C/G;T | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 12 | 96218984 | intron variant | A/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.120 | 14 | 92231568 | intergenic variant | A/T | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 |