| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 8 | 2007 | 2019 | |||||||||
|
1 | 159226975 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2012 | |||||||||||
|
1 | 159308461 | downstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2012 | |||||||||||
|
1 | 159436169 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2007 | 2012 | |||||||||||
|
6 | 88403098 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
5 | 125907327 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
4 | 140466284 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
9 | 82800066 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
10 | 128135192 | intergenic variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
5 | 125907327 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
19 | 30608983 | intron variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1 | 83788868 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 6 | 2008 | 2019 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 5 | 2008 | 2019 | |||||||
|
12 | 121001630 | 3 prime UTR variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2018 | |||||||||
|
0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
12 | 103101373 | intron variant | T/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 8 | 2009 | 2019 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 7 | 2009 | 2019 |