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 | 0.080 | 11 | 78380104 | intron variant | C/A | snv | 0.24 |
|
0.900 | 0.750 | 10 | 2007 | 2018 | ||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.880 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.882 | 0.080 | 10 | 49616573 | missense variant | G/A | snv | 0.21 | 0.18 |
|
0.070 | 0.857 | 7 | 2005 | 2018 | |||||||
|
0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 |
|
0.760 | 0.857 | 6 | 2011 | 2019 | ||||||||
|
0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 |
|
0.050 | 1.000 | 5 | 2009 | 2016 | |||||||
|
1.000 | 0.080 | 6 | 41159805 | missense variant | G/A | snv | 4.9E-03 | 1.8E-03 |
|
0.050 | 1.000 | 5 | 2016 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 |
|
0.850 | 0.833 | 5 | 2011 | 2019 | ||||||||
|
0.882 | 0.080 | 11 | 121612692 | non coding transcript exon variant | C/T | snv | 0.55 | 0.55 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | |||||||
|
1.000 | 0.080 | 11 | 1754930 | missense variant | G/A | snv | 7.0E-06 |
|
0.040 | 0.500 | 4 | 2004 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 41161469 | missense variant | C/A;T | snv | 7.6E-03 |
|
0.740 | 0.800 | 4 | 2015 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 40371688 | missense variant | G/A | snv | 3.1E-03 | 3.6E-03 |
|
0.040 | 1.000 | 4 | 2014 | 2018 | |||||||
|
0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv |
|
0.740 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
1.000 | 0.080 | 11 | 121608249 | non coding transcript exon variant | C/T | snv | 0.27 |
|
0.040 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 121605213 | synonymous variant | T/A | snv | 0.39 | 0.29 |
|
0.040 | 1.000 | 4 | 2009 | 2016 | |||||||
|
0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 |
|
0.840 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv |
|
0.040 | 1.000 | 4 | 2002 | 2016 | |||||||||
|
0.882 | 0.080 | 11 | 121510256 | intron variant | G/A | snv | 0.38 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 121564878 | intron variant | T/A;C | snv |
|
0.830 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 1050421 | intron variant | A/G | snv | 1.7E-02 |
|
0.830 | 0.667 | 3 | 2013 | 2019 | ||||||||
|
0.851 | 0.080 | 9 | 83666280 | intron variant | A/C;G | snv |
|
0.030 | 0.667 | 3 | 2007 | 2015 | |||||||||
|
1.000 | 0.080 | 12 | 7789754 | missense variant | A/G | snv | 4.0E-06 | 4.9E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | |||||||
|
0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 |
|
0.830 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 49635683 | intron variant | G/A | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 169363371 | upstream gene variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 2010 | 2014 |