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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2004 | 2017 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.090 | 1.000 | 9 | 2010 | 2017 | |||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.060 | 1.000 | 6 | 2009 | 2016 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2004 | 2018 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 30 | 2002 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 29 | 2011 | 2019 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.060 | 1.000 | 6 | 2004 | 2014 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.960 | 25 | 2004 | 2017 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.100 | 1.000 | 11 | 2012 | 2017 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.070 | 1.000 | 7 | 2006 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 1.000 | 7 | 2006 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 1.000 | 7 | 2006 | 2018 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.050 | 1.000 | 5 | 2006 | 2019 | |||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |