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 | 7 | 19943391 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.750 | 16 | 2002 | 2018 | |||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.100 | 0.700 | 10 | 2014 | 2019 | |||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.030 | 0.667 | 3 | 2009 | 2017 | |||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.030 | 1.000 | 3 | 2006 | 2019 | |||||||
|
0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.851 | 0.120 | 9 | 99123789 | intron variant | T/C | snv | 6.5E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 155162859 | intergenic variant | T/C | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.851 | 0.160 | 2 | 25345952 | upstream gene variant | T/C | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.851 | 0.120 | 9 | 117702042 | upstream gene variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 19 | 7116952 | 3 prime UTR variant | T/C | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 17 | 80966057 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 8 | 41263761 | 3 prime UTR variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 99878804 | 3 prime UTR variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 12 | 54318989 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 3 | 121729917 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |