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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 1.000 | 0.040 | 4 | 25407216 | missense variant | G/A;T | snv | 0.15; 4.1E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.925 | 0.040 | 6 | 32046679 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.120 | 18 | 55543071 | intron variant | G/T | snv | 0.88 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 7 | 75533848 | 3 prime UTR variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 18 | 44533186 | intron variant | T/C | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 6 | 31596390 | upstream gene variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.120 | 6 | 27332531 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 6 | 26133388 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 14 | 60490561 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 10 | 124737579 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 16 | 954554 | synonymous variant | C/T | snv | 0.28 | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.120 | 11 | 65793149 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 2 | 232727791 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 1 | 26842709 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 8 | 10332530 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 6 | 126383649 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 10 | 12353101 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 7 | 133363002 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |