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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 4 | 54258293 | intron variant | C/T | snv | 0.18 | 0.720 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.040 | 2 | 198814386 | intergenic variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 7 | 156044601 | intergenic variant | T/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 133842608 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 44254406 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 12 | 6888644 | intron variant | A/G | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 12 | 31944426 | intron variant | G/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 15 | 67168419 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 219605617 | downstream gene variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.763 | 0.200 | 15 | 28120472 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 81025926 | upstream gene variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 2 | 152508013 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 128714425 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 22056971 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 168431411 | intergenic variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 24127414 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 2 | 70905884 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 54223647 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 116179952 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 17 | 81644245 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 142064704 | intergenic variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 2 | 152501027 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 219594789 | regulatory region variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 54222594 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 |