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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 10 | 52771482 | missense variant | G/A | snv | 5.6E-02 | 5.0E-02 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 12 | 8533837 | 3 prime UTR variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 8535216 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 67651415 | missense variant | C/G;T | snv | 9.2E-02 | 8.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 9 | 117717837 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 4 | 74382717 | synonymous variant | A/G | snv | 0.79 | 0.79 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 3 | 38137763 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 17 | 35879999 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 187247480 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.320 | 1 | 206771818 | intron variant | G/A | snv | 1.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.120 | 4 | 76023632 | intron variant | C/T | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |