| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.800 | 1.000 | 14 | 2008 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 8 | 2009 | 2019 | |||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | |||||||
|
0.925 | 0.120 | 4 | 9925343 | intron variant | T/G | snv | 0.39 |
|
0.800 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 64566642 | non coding transcript exon variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 |
|
0.800 | 1.000 | 5 | 2008 | 2016 | |||||||
|
0.882 | 0.200 | 6 | 25812922 | missense variant | G/A | snv | 0.62 | 0.66 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||
|
0.851 | 0.160 | 4 | 9914117 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 88124179 | intron variant | A/G;T | snv | 0.88 |
|
0.700 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 |
|
0.800 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 9995266 | intron variant | T/C | snv | 0.82 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 145711327 | upstream gene variant | T/G | snv | 0.43 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
0.800 | 1.000 | 3 | 2009 | 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 | |||||||||||
|
0.882 | 0.160 | 1 | 145711421 | upstream gene variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||
|
0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 |
|
0.800 | 1.000 | 3 | 2009 | 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 | ||||||||
|
0.882 | 0.200 | 6 | 25794203 | intron variant | A/G | snv | 0.66 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 88143429 | intron variant | A/C | snv | 0.48 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 |
|
0.800 | 1.000 | 3 | 2009 | 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 |