| 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 | 14 | 100791418 | intron variant | C/T | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 10207087 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 102224604 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 102378967 | non coding transcript exon variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 102441313 | downstream gene variant | T/G | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 102601100 | intergenic variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 102687414 | intergenic variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 102729561 | intergenic variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 10310117 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 103154183 | intron variant | T/C;G | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 103198487 | intergenic variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 105102944 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 4 | 105154341 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 4 | 105212027 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 10678234 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 2 | 108534717 | intron variant | T/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 108966833 | intron variant | C/G | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 108969116 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 110266324 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 11080672 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 11099091 | TF binding site variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 111130683 | intergenic variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 111139029 | downstream gene variant | G/A;C | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 111182787 | intron variant | A/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 |