| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 5 | 170487960 | intron variant | C/T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 21 | 43056923 | intron variant | T/C | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 2 | 28788221 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 13 | 41459562 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 1 | 244750932 | intergenic variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 20 | 5079306 | intron variant | C/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 4 | 28961215 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 7 | 21927090 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 2 | 136609937 | intergenic variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 3 | 62542448 | intron variant | C/T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 4 | 40240870 | intron variant | -/T | delins | 7.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 16 | 74411734 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 4 | 99522696 | synonymous variant | A/G | snv | 4.8E-02 | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 5 | 179974542 | intron variant | G/A | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 19 | 8085509 | missense variant | C/T | snv | 1.8E-02 | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 7 | 40294343 | intron variant | T/G | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 16 | 35734888 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 3 | 143686482 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 5 | 142644691 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 12 | 111266635 | intron variant | G/A | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 7 | 28506192 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 10 | 25728984 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 11 | 91221441 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 14 | 106587377 | upstream gene variant | C/T | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |