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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 22 | 42127526 | missense variant | C/G;T | snv | 4.4E-06; 9.2E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 10 | 94922089 | intergenic variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 8 | 31622107 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 18 | 37565159 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 144698602 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 2 | 9788024 | intergenic variant | G/A | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 8 | 79644265 | intron variant | G/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 22 | 22047895 | intron variant | C/T | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 81128126 | intergenic variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 13107616 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.040 | 18 | 49694188 | intergenic variant | T/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 129115280 | 3 prime UTR variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 4 | 27962783 | downstream gene variant | A/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 8 | 10307685 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 9 | 23347726 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 19 | 47657765 | intron variant | G/A | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 9 | 24520196 | intergenic variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 8 | 56934154 | intergenic variant | C/T | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 17 | 45486856 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 4 | 150101495 | intron variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 7 | 101642897 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 8 | 134558431 | intron variant | A/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 11 | 12065766 | upstream gene variant | G/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 5 | 31766326 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 |