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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 2 | 222613892 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 2 | 222642894 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 2 | 222631635 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.280 | 2 | 222623699 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 2 | 222631606 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 13 | 51949798 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
15 | 0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 4 | 189571800 | intergenic variant | T/C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
9 | 0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 6 | 159990235 | intron variant | A/G | snv | 0.83 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 19 | 9298599 | intron variant | C/G | snv | 0.16 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.810 | 0.500 | 2 | 2012 | 2017 | ||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.862 | 29 | 2011 | 2019 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 0.909 | 11 | 2001 | 2017 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 0.970 | 33 | 2000 | 2018 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 1.000 | 14 | 2011 | 2018 | ||||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.050 | 1.000 | 5 | 2016 | 2019 | |||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.050 | 1.000 | 5 | 2011 | 2019 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.040 | 1.000 | 4 | 2016 | 2019 |