| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 4 | 88124179 | intron variant | A/G;T | snv | 0.88 |
|
0.700 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
8 | 75550312 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
0.925 | 0.120 | 2 | 147958859 | missense variant | T/A;C;G | snv | 0.36; 8.4E-06 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
20 | 58888417 | 5 prime UTR variant | C/G | snv | 0.60 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
0.882 | 0.160 | 6 | 7101851 | intergenic variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
4 | 9983752 | intron variant | G/T | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 151708919 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 9996816 | synonymous variant | C/G;T | snv | 1.2E-05; 0.70 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
10 | 87149155 | intron variant | G/T | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.925 | 0.120 | 1 | 145744615 | 3 prime UTR variant | G/A;C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 9996869 | synonymous variant | A/G | snv | 0.80 | 0.79 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | |||||||
|
11 | 63552521 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
16 | 69556463 | intergenic variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.925 | 0.120 | 17 | 76287588 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
2 | 169343942 | intron variant | A/T | snv | 4.6E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.925 | 0.120 | 5 | 73135655 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1 | 145707383 | 5 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 |