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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.100 | 0.545 | 11 | 2011 | 2019 | ||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.100 | 0.909 | 11 | 2005 | 2017 | |||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.100 | 0.909 | 11 | 2013 | 2020 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.900 | 10 | 2005 | 2013 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.100 | 0.900 | 10 | 2002 | 2017 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.100 | 0.800 | 10 | 2004 | 2019 | ||||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
0.100 | 0.900 | 10 | 2010 | 2018 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.090 | 1.000 | 9 | 2010 | 2019 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.090 | 0.889 | 9 | 2002 | 2015 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 1.000 | 9 | 2006 | 2013 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.090 | 1.000 | 9 | 2003 | 2016 | |||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.090 | 1.000 | 9 | 2011 | 2019 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.090 | 1.000 | 9 | 2009 | 2017 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.080 | 1.000 | 8 | 2012 | 2018 | ||||||||
|
0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.080 | 0.625 | 8 | 2009 | 2019 | |||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.080 | 0.500 | 8 | 2016 | 2019 | ||||||||
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.080 | 1.000 | 8 | 2012 | 2020 | ||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.070 | 1.000 | 7 | 2005 | 2018 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.070 | 1.000 | 7 | 2001 | 2014 | |||||||
|
0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 |
|
0.070 | 0.571 | 7 | 2016 | 2018 | ||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.070 | 1.000 | 7 | 2013 | 2019 | |||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.070 | 1.000 | 7 | 2012 | 2018 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.070 | 1.000 | 7 | 2011 | 2019 | |||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.070 | 1.000 | 7 | 2007 | 2019 | |||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.070 | 0.857 | 7 | 2009 | 2018 |