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 | X | 106768355 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 60008735 | non coding transcript exon variant | G/A | snv | 6.9E-03 | 6.2E-03 | 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 | 7 | 142770747 | intron variant | C/G | snv | 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 | X | 106730962 | intron variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142776454 | downstream gene variant | G/C | 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 | 142783765 | upstream gene variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142800839 | upstream gene variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 7 | 142800425 | upstream gene variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142778229 | downstream gene variant | T/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 | ||||
|
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 | 1 | 15423721 | intron variant | A/G | snv | 0.54 | 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 | 7 | 142770582 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142696365 | downstream gene variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142804603 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 106834287 | intron variant | G/A | snv | 5.1E-02 | 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 | 7 | 142765664 | intron variant | G/T | snv | 3.6E-02 | 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 | 142777285 | downstream gene variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |