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 | 0.080 | 2 | 178614110 | missense variant | G/A;T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.280 | 1 | 161791486 | missense variant | G/C | snv | 0.14 | 9.2E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
9 | 0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.050 | 0.600 | 5 | 2011 | 2014 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.050 | 0.800 | 5 | 2013 | 2018 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.040 | 1.000 | 4 | 2016 | 2018 | |||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
4 | 0.851 | 0.280 | 6 | 31162816 | 3 prime UTR variant | G/A | snv | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
8 | 0.827 | 0.160 | 6 | 31264334 | downstream gene variant | A/G | snv | 0.81 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 9 | 117713974 | stop gained | C/G;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |