| 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 | 0.080 | 2 | 27633057 | intron variant | G/A | snv | 0.53 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 5 | 1343679 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 15 | 49536822 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 11 | 5807854 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 6 | 31579073 | downstream gene variant | G/A | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 15 | 96319940 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 6 | 32679924 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.160 | 6 | 32668343 | 5 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 9 | 131087186 | intron variant | T/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 5 | 19108581 | intron variant | G/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 9 | 22064466 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 9 | 131076637 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 120798309 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 1 | 204556440 | 3 prime UTR variant | G/C;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 9 | 36110066 | synonymous variant | T/A | snv | 0.32 | 0.28 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 60210809 | intron variant | G/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |