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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 16 | 69282015 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 9 | 88973603 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 8 | 31371254 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 52058389 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 1003856 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 9407441 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 7 | 54496119 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 11 | 1749985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 21 | 45253853 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 60075450 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 13 | 32663326 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 4 | 25377604 | intron variant | G/A;T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 71747319 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 1 | 13913797 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 177057129 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 20 | 288517 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 8 | 144842937 | stop gained | C/G;T | snv | 1.6E-05; 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 4793628 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 20 | 37843596 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 20 | 959154 | 3 prime UTR variant | C/T | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 15 | 39602982 | intron variant | A/T | snv | 8.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 77072001 | intron variant | T/C | snv | 9.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 53804550 | intron variant | A/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 69662005 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 65950288 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |