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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 15 | 66481818 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.776 | 0.080 | 10 | 50888694 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 6297738 | regulatory region variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 12 | 6302870 | intergenic variant | T/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 7 | 46887097 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 9 | 110909123 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 20 | 7760329 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 12 | 50823107 | downstream gene variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 10 | 112962862 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.790 | 0.080 | 3 | 134029945 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 42740389 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.080 | 6 | 31042408 | regulatory region variant | T/C | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.080 | 2 | 97658891 | missense variant | G/A | snv | 7.0E-02 | 6.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.080 | 8 | 116778675 | intron variant | C/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.776 | 0.080 | 4 | 144737912 | synonymous variant | T/C | snv | 6.6E-02 | 6.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.080 | 2 | 198747683 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 2 | 198737201 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 1 | 54782179 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 16 | 86305709 | upstream gene variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 10 | 112528860 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 10 | 112535133 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 12 | 50777307 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 |