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 | 1.000 | 0.080 | 7 | 142768604 | intron variant | A/C | snv | 5.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 107318205 | intergenic variant | A/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15791573 | upstream gene variant | A/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142779536 | non coding transcript exon variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 107370118 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142758607 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 106964394 | intron variant | A/G | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15423721 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142770582 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142652944 | upstream gene variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142745362 | upstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15436844 | upstream gene variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 142751805 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142627230 | missense variant | C/A | snv | 0.13; 3.2E-05 | 9.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.120 | 7 | 142715462 | intron variant | C/A | snv | 0.33 | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 7 | 142648438 | downstream gene variant | C/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142758924 | upstream gene variant | C/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142619745 | downstream gene variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142751439 | non coding transcript exon variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142725721 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 15456801 | splice region variant | C/G | snv | 2.8E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 7 | 142770747 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 107434651 | intergenic variant | C/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |