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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 49 | 2009 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 19 | 2011 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 18 | 2011 | 2020 | ||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 16 | 2009 | 2020 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.933 | 15 | 2010 | 2017 | |||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.900 | 0.941 | 15 | 2009 | 2020 | |||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.100 | 0.929 | 14 | 2010 | 2017 | |||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.900 | 0.875 | 14 | 2009 | 2020 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.900 | 0.889 | 13 | 2009 | 2020 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.100 | 1.000 | 11 | 2005 | 2017 | ||||||||
|
0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.900 | 1.000 | 11 | 2009 | 2020 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.090 | 0.889 | 9 | 2012 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 0.625 | 8 | 2008 | 2018 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.080 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.080 | 0.875 | 8 | 2012 | 2017 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.070 | 0.857 | 7 | 2014 | 2017 | ||||||||
|
0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 |
|
0.070 | 1.000 | 7 | 2010 | 2019 | |||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 |
|
0.060 | 1.000 | 6 | 2013 | 2017 | |||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.060 | 1.000 | 6 | 2010 | 2018 | |||||||
|
0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 |
|
0.860 | 0.833 | 6 | 2011 | 2017 | ||||||||
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.760 | 1.000 | 6 | 2013 | 2019 | ||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 | |||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.050 | 1.000 | 5 | 2014 | 2019 |