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 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 31356183 | missense variant | G/A;C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 58511522 | missense variant | A/G | snv | 0.66 | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 14 | 70907985 | synonymous variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 15 | 90885060 | synonymous variant | C/G;T | snv | 8.1E-06; 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 15724453 | 3 prime UTR variant | G/A;C | snv | 0.56; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 90855772 | missense variant | G/A | snv | 0.54 | 0.45 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.851 | 0.080 | 3 | 52781889 | intron variant | T/C | snv | 0.49 | 0.54 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||
|
1.000 | 0.040 | 3 | 52799789 | missense variant | C/A | snv | 0.48 | 0.54 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 29983601 | synonymous variant | C/T | snv | 0.44 | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 8 | 143572424 | missense variant | G/A;T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 29989580 | intron variant | G/A;C | snv | 0.41 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 14 | 20403486 | non coding transcript exon variant | C/A | snv | 0.37 | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 58089679 | missense variant | A/G | snv | 0.36 | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 22 | 50678709 | intron variant | G/A | snv | 0.35 | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 6 | 31758911 | intron variant | C/A | snv | 0.34 | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 18 | 53305732 | intron variant | A/G | snv | 0.31 | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 22 | 50313721 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 15 | 84037709 | missense variant | C/T | snv | 0.22 | 0.19 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 50106424 | intron variant | C/A | snv | 0.22; 3.8E-05 | 0.18 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 130394854 | 3 prime UTR variant | T/C | snv | 0.21 | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 204618441 | missense variant | G/A;C | snv | 4.0E-06; 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.320 | 6 | 32815309 | synonymous variant | A/G | snv | 0.18 | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 9 | 4576774 | intron variant | G/A | snv | 0.18 | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |