| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv |
|
0.860 | 1.000 | 6 | 2013 | 2019 | |||||||||
|
0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 |
|
0.760 | 0.857 | 6 | 2011 | 2019 | ||||||||
|
0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv |
|
0.760 | 1.000 | 6 | 1991 | 2016 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.050 | 0.600 | 5 | 2005 | 2015 | |||||||||
|
0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2009 | 2015 | ||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.040 | 0.750 | 4 | 1998 | 2018 | |||||||||
|
1.000 | 0.080 | 11 | 1754930 | missense variant | G/A | snv | 7.0E-06 |
|
0.040 | 0.500 | 4 | 2004 | 2015 | ||||||||
|
0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv |
|
0.740 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.040 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 |
|
0.840 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 121608249 | non coding transcript exon variant | C/T | snv | 0.27 |
|
0.040 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
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 | |||||||||
|
0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 1998 | 2017 | |||||||||
|
0.882 | 0.080 | 11 | 121510256 | intron variant | G/A | snv | 0.38 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.807 | 0.200 | 14 | 99691630 | non coding transcript exon variant | A/G | snv | 0.27 |
|
0.040 | 1.000 | 4 | 2006 | 2009 | ||||||||
|
0.882 | 0.120 | 19 | 44905371 | upstream gene variant | T/C | snv | 7.0E-02 |
|
0.740 | 1.000 | 4 | 2009 | 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 | |||||||||
|
0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 |
|
0.030 | 1.000 | 3 | 2010 | 2020 | ||||||||
|
0.882 | 0.160 | 14 | 52933911 | intron variant | T/C | snv | 8.6E-02 |
|
0.830 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
0.030 | 1.000 | 3 | 2009 | 2016 | |||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.030 | 0.667 | 3 | 2009 | 2013 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.030 | 1.000 | 3 | 2007 | 2016 |