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 | 0.925 | 0.040 | 22 | 31815209 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||
|
8 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
3 | 0.925 | 20 | 63413526 | missense variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||||
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
6 | 0.827 | 0.160 | 1 | 160041722 | missense variant | G/A | snv | 4.6E-02 | 4.7E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | |||
|
12 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 2 | 2002 | 2011 | |||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 1.000 | 0.040 | 12 | 51807223 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
6 | 0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
9 | 0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.160 | 12 | 51806788 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2018 | 2020 | |||||
|
11 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
13 | 0.807 | 0.280 | 16 | 2496872 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | |||
|
9 | 0.882 | 0.280 | 16 | 2496266 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
9 | 0.882 | 0.280 | 16 | 2499425 | splice region variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
25 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
3 | 0.925 | 20 | 63442428 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | ||||||
|
9 | 0.882 | 0.280 | 16 | 2496476 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
9 | 0.882 | 0.280 | 16 | 2496267 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 15 | 89319225 | splice region variant | T/A;C | snv | 4.0E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 |