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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.900 | 1.000 | 15 | 2006 | 2019 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
6 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 0.700 | 1.000 | 4 | 2012 | 2016 | |||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 14 | 35395672 | intergenic variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 20536128 | intergenic variant | C/A;T | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 28102567 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 198016459 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 8526108 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 17 | 45378874 | intergenic variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 15 | 60776505 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 16730976 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 11 | 65791795 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 10 | 62616798 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 2579316 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 187711669 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 6 | 33679281 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 91168389 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 111030094 | intergenic variant | C/T | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 111563369 | downstream gene variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 209159 | upstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 8563590 | intergenic variant | G/C;T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 |