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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 25243904 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.160 | 5 | 87268486 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.120 | X | 71119380 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 19 | 17838014 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 6 | 137874825 | intron variant | CCT/- | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.120 | 12 | 4302638 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 5 | 153790814 | intron variant | G/A;T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 6 | 137876194 | intron variant | A/C | snv | 0.62 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
29 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.280 | 11 | 108251012 | stop gained | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.200 | 16 | 89803299 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 9 | 136496526 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.200 | 3 | 10036306 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
3 | 0.882 | 0.160 | 1 | 85270828 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 48955799 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 19 | 48955714 | frameshift variant | GGGGGGG/-;GGGGGG;GGGGGGGG | delins | 0.700 | 0 |