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 | 0.040 | 15 | 69934284 | intergenic variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 5 | 5297087 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 11 | 99625823 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 8 | 68961217 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 13 | 76889874 | non coding transcript exon variant | T/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 7 | 81207393 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 7 | 82414674 | intron variant | T/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 7 | 111871082 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 5 | 81072944 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 5 | 95647825 | 5 prime UTR variant | C/T | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 11 | 67449378 | upstream gene variant | A/G | snv | 4.5E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 20 | 41197420 | intron variant | A/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 17 | 28110028 | intron variant | G/A | snv | 7.1E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 103390184 | intron variant | T/A;C | snv | 4.3E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 52767390 | intron variant | T/C | snv | 1.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | X | 142772620 | intergenic variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 89500202 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 103218955 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 12 | 26124961 | 5 prime UTR variant | ACACGCACAC/-;ACACGCACACACACGCACAC | delins | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 5 | 39203496 | intron variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 6 | 1402916 | intergenic variant | GACA/- | delins | 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 11 | 118444134 | intron variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 11 | 132846474 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 |