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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 112837872 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 109734239 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.120 | 17 | 17228023 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.240 | 1 | 17054012 | missense variant | G/A;C | snv | 4.1E-06; 3.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
29 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
5 | 0.827 | 0.160 | 3 | 52394972 | synonymous variant | C/A | snv | 8.3E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.160 | 3 | 52396510 | missense variant | G/A | snv | 0.19 | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 |