| 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 | |||||||||
|
0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv |
|
0.760 | 1.000 | 6 | 1991 | 2016 | |||||||||
|
0.882 | 0.120 | 3 | 39412034 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 1998 | 2003 | |||||||
|
0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2010 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.050 | 1.000 | 5 | 2008 | 2016 | |||||||
|
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 | |||||||
|
0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2009 | 2015 | ||||||||
|
0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 |
|
0.050 | 1.000 | 5 | 2015 | 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 | |||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
0.040 | 1.000 | 4 | 2006 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 40371688 | missense variant | G/A | snv | 3.1E-03 | 3.6E-03 |
|
0.040 | 1.000 | 4 | 2014 | 2018 | |||||||
|
0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 |
|
0.040 | 1.000 | 4 | 2004 | 2019 | |||||||
|
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 | ||||||||
|
0.925 | 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 | |||||||||
|
0.827 | 0.120 | 14 | 73198052 | missense variant | C/T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2002 | 2014 | ||||||||
|
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 |