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 | 1.000 | 0.040 | 18 | 62576643 | 3 prime UTR variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 14 | 99246608 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 32335895 | intron variant | T/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 16 | 9833109 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 16 | 70702849 | intron variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 42473630 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 4 | 161372886 | intergenic variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 152697204 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 11 | 61824435 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 70671822 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 42729788 | splice region variant | G/A;C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 4 | 55514317 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 110824378 | intergenic variant | A/G | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 15 | 38694612 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 60680195 | downstream gene variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 121233533 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 22 | 40813300 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 12 | 132621913 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.040 | 6 | 151506923 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 14 | 32749087 | intron variant | T/C | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 145943513 | intergenic variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 17 | 55258467 | intergenic variant | T/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 2 | 202968295 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |