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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 | 0.820 | 1.000 | 4 | 2012 | 2019 | ||||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.040 | 0.750 | 4 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 11754872 | intron variant | T/C | snv | 0.34 | 0.030 | 0.667 | 3 | 2014 | 2016 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.333 | 3 | 1999 | 2003 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
4 | 0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.925 | 0.120 | 4 | 99144358 | intron variant | T/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
4 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 1.000 | 0.080 | 4 | 99329813 | intron variant | C/A | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 20 | 1989288 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.080 | 20 | 1991814 | intron variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 0.500 | 2 | 2015 | 2020 | ||||
|
1 | 1.000 | 0.080 | 6 | 29621889 | intron variant | C/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
5 | 0.827 | 0.080 | 7 | 137008914 | intron variant | T/A | snv | 0.55 | 0.020 | 1.000 | 2 | 2004 | 2011 | ||||
|
2 | 1.000 | 0.080 | 4 | 99144933 | intron variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 4 | 155208030 | non coding transcript exon variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
15 | 0.752 | 0.160 | 11 | 27678578 | intron variant | C/T | snv | 0.82 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
8 | 0.827 | 0.360 | 12 | 111766623 | intron variant | A/G | snv | 0.35 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 236600564 | intergenic variant | G/A | snv | 0.33 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.080 | 4 | 46369816 | intron variant | G/A;T | snv | 0.020 | 0.500 | 2 | 2014 | 2015 |