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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 5 | 174407635 | intron variant | A/G | snv | 0.30 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 138699044 | missense variant | C/T | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 3 | 129432824 | intron variant | A/G | snv | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 2999495 | non coding transcript exon variant | A/G | snv | 0.70 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
16 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 3 | 129430178 | upstream gene variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 12 | 109100430 | intron variant | A/G | snv | 1.9E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
10 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 16 | 57358821 | missense variant | A/C;T | snv | 0.92 | 0.94 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 4 | 89513521 | intron variant | G/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 1 | 9720853 | missense variant | G/A | snv | 8.3E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 17 | 82830681 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
14 | 0.752 | 0.080 | 10 | 94051682 | intron variant | C/T | snv | 0.39 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 15 | 60803856 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
20 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 0.333 | 3 | 2007 | 2013 |