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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.763 | 0.320 | 14 | 45189123 | stop gained | C/T | snv | 1.2E-03 | 1.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.776 | 0.200 | 14 | 45198718 | stop gained | C/A;T | snv | 4.0E-06; 1.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.160 | 6 | 32129371 | missense variant | G/A | snv | 2.7E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.360 | 6 | 32440958 | intron variant | A/C | snv | 0.30 | 0.720 | 0.667 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 0.720 | 1.000 | 2 | 2011 | 2015 | ||||
|
9 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.720 | 0.500 | 2 | 2011 | 2015 | ||||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.720 | 0.500 | 2 | 2011 | 2015 | |||||
|
3 | 0.882 | 0.160 | 6 | 32318984 | intron variant | T/G | snv | 0.14 | 0.710 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 22 | 30108218 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 18 | 63257737 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 20 | 32807793 | missense variant | G/A;T | snv | 2.8E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 9 | 894044 | missense variant | A/G | snv | 2.7E-03 | 1.3E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 7 | 91638848 | non coding transcript exon variant | G/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 24032586 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 2459149 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 9945648 | intron variant | T/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 96886185 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 151775494 | missense variant | A/G;T | snv | 0.23 | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 |