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 | 1.000 | 0.040 | 10 | 99861014 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 104782419 | 3 prime UTR variant | C/T | snv | 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | X | 75053456 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 19 | 6919613 | missense variant | A/C | snv | 0.77 | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 19 | 6919742 | missense variant | A/G;T | snv | 0.77 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins | 0.700 | 0 | ||||||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 0.040 | 1.000 | 4 | 2013 | 2020 | ||||
|
1 | 1.000 | 0.040 | 3 | 54442613 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 54387228 | intron variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.200 | MT | 15257 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 0.700 | 0 |