| 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 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 1998 | 2018 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2007 | 2015 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.988 | 83 | 2003 | 2020 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.987 | 79 | 2003 | 2020 | |||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.060 | 0.667 | 6 | 2012 | 2019 | |||||||
|
0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv |
|
0.060 | 1.000 | 6 | 2012 | 2016 | |||||||||
|
0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2009 | 2015 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.050 | 1.000 | 5 | 2012 | 2017 | ||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.050 | 1.000 | 5 | 2012 | 2015 | ||||||||
|
0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 |
|
0.040 | 0.750 | 4 | 2012 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2014 | 2018 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.040 | 0.750 | 4 | 2012 | 2019 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.040 | 0.750 | 4 | 2012 | 2019 | ||||||||
|
0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 |
|
0.040 | 1.000 | 4 | 2016 | 2017 | |||||||
|
0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2014 | 2015 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2014 | 2015 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.020 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2002 | 2015 |