| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 148855364 | intron variant | C/T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 8 | 81478525 | 3 prime UTR variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.080 | 2 | 47791055 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 17 | 43063889 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.080 | 2 | 47799482 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 22 | 30940834 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 6 | 151597721 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.080 | 2 | 217059671 | downstream gene variant | G/A;C;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 18 | 26990703 | intron variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 16 | 46822677 | intron variant | T/C | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 19 | 17267350 | intron variant | T/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 13 | 32339456 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |