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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.080 | 12 | 71954918 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 7 | 129765967 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 9 | 133644512 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 16 | 83074041 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 7 | 129767724 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.160 | 22 | 19962794 | missense variant | A/G | snv | 8.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 0.500 | 2 | 2013 | 2018 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2017 | 2017 |