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 | 0.080 | 8 | 11756716 | non coding transcript exon variant | G/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 8 | 11708800 | missense variant | C/G;T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||
|
8 | 0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 9 | 136494732 | 3 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 5 | 173232508 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 18 | 79466368 | intron variant | G/A | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 15 | 89750880 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 6 | 84765153 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 5 | 88823746 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 5 | 173232819 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
3 | 0.925 | 0.080 | 16 | 86510849 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 0.700 | 0 | |||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 8 | 143818077 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 0.700 | 0 |