| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv |
|
0.750 | 1.000 | 5 | 2006 | 2013 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.800 | 5 | 2006 | 2019 | |||||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.740 | 1.000 | 4 | 2001 | 2019 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.740 | 1.000 | 4 | 2009 | 2016 | |||||||||
|
1.000 | 0.040 | 11 | 4138534 | 3 prime UTR variant | A/T | snv | 0.88 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv |
|
0.720 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.882 | 0.080 | 19 | 17837200 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2011 | 2015 | |||||||||
|
0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.763 | 0.120 | 17 | 42300657 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.720 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.807 | 0.280 | 12 | 10119994 | intron variant | G/C | snv | 0.42 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.807 | 0.080 | 5 | 177512369 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 15 | 90088650 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.925 | 0.080 | 16 | 85921636 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 13 | 28027222 | missense variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2019 |