Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.800 | 0.917 | 28 | 2007 | 2018 | |||||
|
10 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.800 | 1.000 | 26 | 2008 | 2019 | ||||
|
55 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.800 | 0.857 | 24 | 2007 | 2017 | ||||
|
16 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 0.800 | 0.950 | 17 | 2007 | 2018 | ||||
|
11 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.800 | 1.000 | 16 | 2008 | 2018 | ||||
|
9 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
5 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 0.923 | 12 | 2008 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.727 | 11 | 2004 | 2016 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.100 | 0.900 | 10 | 2000 | 2018 | ||||
|
3 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 0.780 | 1.000 | 8 | 2008 | 2017 | ||||
|
7 | 0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv | 0.070 | 1.000 | 7 | 2008 | 2017 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.070 | 0.714 | 7 | 2009 | 2019 | ||||
|
3 | 0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 | 0.770 | 0.900 | 7 | 2008 | 2016 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.060 | 0.667 | 6 | 2007 | 2016 | |||||
|
4 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 0.760 | 0.857 | 6 | 2010 | 2016 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.060 | 0.667 | 6 | 2007 | 2016 | |||||
|
8 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.050 | 0.800 | 5 | 2010 | 2014 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.050 | 0.800 | 5 | 2012 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 | 0.050 | 0.800 | 5 | 2006 | 2018 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.050 | 0.800 | 5 | 2010 | 2019 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.050 | 0.800 | 5 | 2012 | 2017 | ||||
|
5 | 0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 | 0.740 | 1.000 | 4 | 2010 | 2013 | ||||
|
7 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.040 | 0.750 | 4 | 2002 | 2011 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.040 | 0.500 | 4 | 2009 | 2015 |