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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 0.050 | 1.000 | 5 | 2015 | 2018 | |||||
|
7 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 2015 | 2018 | |||||
|
3 | 0.925 | 0.120 | 6 | 33579060 | intron variant | T/C | snv | 0.74 | 0.820 | 1.000 | 3 | 2012 | 2013 | ||||
|
3 | 0.925 | 0.120 | 11 | 123484683 | intron variant | A/G | snv | 0.15 | 0.710 | 1.000 | 3 | 2016 | 2018 | ||||
|
2 | 0.925 | 0.120 | 15 | 40111456 | upstream gene variant | C/G | snv | 0.50 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 18 | 50317164 | upstream gene variant | A/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 1.000 | 0.120 | 16 | 81912655 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 81928578 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | |||||
|
2 | 0.925 | 0.120 | 9 | 22336997 | intergenic variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 4 | 108105258 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 8 | 102566646 | regulatory region variant | T/G | snv | 0.41 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 11 | 2299865 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 2 | 37368946 | intron variant | C/T | snv | 0.43 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 85895015 | upstream gene variant | A/T | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.925 | 0.120 | 18 | 59955055 | TF binding site variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 10 | 88999967 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 18 | 63126261 | 3 prime UTR variant | C/T | snv | 6.0E-02 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 111074216 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.925 | 0.120 | 2 | 241253433 | missense variant | T/C;G | snv | 0.19; 8.4E-05 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.120 | 13 | 108267195 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 7675091 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 15 | 56483399 | intergenic variant | A/G | snv | 8.0E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 15 | 69728186 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 200875545 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 |