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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 10 | 48817351 | missense variant | G/A | snv | 0.38 | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 6 | 31766568 | synonymous variant | G/T | snv | 6.3E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.320 | 6 | 31774813 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 31774290 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 33267978 | synonymous variant | G/A | snv | 0.39 | 0.40 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 11 | 61142109 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2005 | 2018 | |||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.040 | 0.750 | 4 | 2005 | 2013 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.030 | 0.667 | 3 | 2011 | 2013 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.020 | 1.000 | 2 | 2005 | 2011 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.776 | 0.440 | 6 | 43774889 | non coding transcript exon variant | T/C | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.882 | 0.200 | 6 | 43782850 | non coding transcript exon variant | G/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 12 | 47895590 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 12 | 47886882 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 12 | 47879101 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 19 | 6825021 | intron variant | T/C | snv | 0.36 | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 19 | 6799666 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.160 | 19 | 6801470 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.160 | 19 | 6774058 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 6 | 30914857 | synonymous variant | C/T | snv | 0.32 | 0.28 |
|
0.700 | 1.000 | 2 | 2007 | 2009 |