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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 107793911 | intron variant | A/C | snv | 0.11 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
5 | 0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 97876993 | TF binding site variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.040 | 15 | 38555562 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 19512621 | intron variant | A/C | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 4981276 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 107727331 | intron variant | A/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 148744675 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 12189511 | intron variant | A/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 62317256 | intergenic variant | A/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 128150251 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 17 | 8961373 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
2 | 1.000 | 0.040 | 1 | 19534612 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 | 0.820 | 1.000 | 4 | 2011 | 2019 | ||||
|
4 | 0.925 | 0.080 | 9 | 97794690 | intron variant | A/G | snv | 0.72 | 0.710 | 1.000 | 3 | 2011 | 2014 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||
|
1 | 1.000 | 0.040 | 6 | 165633546 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 97779894 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 |