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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 5 | 150226431 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 18 | 58451261 | non coding transcript exon variant | C/A;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 227805760 | 5 prime UTR variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 114526440 | intron variant | -/C;CCACTCTCTTCCTC | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 233277843 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 70529879 | upstream gene variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 0.040 | 7 | 1541285 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.200 | 1 | 150510879 | missense variant | C/T | snv | 0.34 | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 7 | 1544037 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 2 | 233285017 | intron variant | A/T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 2 | 233293054 | intron variant | G/C | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 240634984 | downstream gene variant | G/A;T | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 102311181 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 2 | 102311266 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 233261751 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 26890667 | regulatory region variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | 20 | 54150268 | downstream gene variant | G/A | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.160 | 22 | 30610873 | missense variant | A/G | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
6 | 0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
8 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2016 | 2017 |