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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.320 | 6 | 29388554 | intron variant | A/G | snv | 5.8E-02 | 0.820 | 1.000 | 4 | 2012 | 2017 | ||||
|
6 | 0.882 | 0.160 | 15 | 57960908 | intron variant | T/A;C | snv | 0.820 | 0.667 | 3 | 2013 | 2016 | |||||
|
5 | 0.925 | 0.080 | 19 | 18692362 | intron variant | T/G | snv | 0.67 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 34332237 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 2 | 21027351 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 16 | 19680261 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 117616658 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 8 | 10210563 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 19 | 18693485 | intron variant | G/- | del | 9.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 15 | 58069827 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 9 | 21978980 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 15 | 57975219 | intron variant | ACAT/- | delins | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 150176995 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 9 | 97548219 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 12 | 98617494 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.160 | 16 | 86369512 | intergenic variant | C/T | snv | 0.64 | 0.820 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
3 | 0.882 | 0.080 | 3 | 70868488 | intergenic variant | A/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 18 | 22074176 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 61485463 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 51339044 | intergenic variant | C/T | snv | 0.64 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 70880832 | regulatory region variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2005 | 2008 |