| 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 | 7 | 99968131 | missense variant | T/G | snv | 5.3E-03 | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 7 | 99883210 | intron variant | G/A | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 99844724 | intron variant | T/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 99562798 | regulatory region variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 10 | 99545585 | intergenic variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 99525359 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 7 | 99397842 | intron variant | G/A | snv | 1.5E-02 | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.120 | 4 | 9925343 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 14 | 99232594 | intron variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 99200353 | intron variant | C/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 99108167 | intergenic variant | G/A | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 98949095 | intron variant | C/T | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 98919494 | intron variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 98244682 | synonymous variant | G/A | snv | 0.29 | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 5 | 98103278 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 98001175 | intron variant | T/-;TT | delins | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 97977842 | intergenic variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 95759714 | upstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 95536861 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 95480024 | intron variant | T/A;C;G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 9547364 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 11 | 95153468 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 15 | 95152973 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 95059968 | intron variant | T/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 |