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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
25 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 9 | 4557296 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 74683339 | intron variant | A/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 9 | 84919243 | intron variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 4 | 47141348 | intron variant | G/T | snv | 0.19 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
16 | 0.732 | 0.360 | 15 | 74724835 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.360 | 3 | 12159406 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 9 | 84944879 | intron variant | C/T | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 5 | 36656616 | intron variant | T/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 6 | 85465856 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
3 | 0.925 | 0.040 | 20 | 63415086 | stop gained | G/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 6 | 1984 | 2015 | ||||
|
3 | 0.925 | 0.040 | 22 | 31815209 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
9 | 0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
3 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
6 | 0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 |