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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.050 | 1.000 | 5 | 2012 | 2016 | |||
|
4 | 1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 | 0.820 | 1.000 | 4 | 2012 | 2019 | ||||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.720 | 1.000 | 4 | 2014 | 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 | ||||
|
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 | |||||
|
1 | 1.000 | 0.080 | 4 | 99124423 | stop gained | T/A;C | snv | 0.78 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 1.000 | 0.080 | 4 | 99329813 | intron variant | C/A | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 20 | 1991814 | intron variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.080 | 5 | 6633666 | synonymous variant | C/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
1 | 1.000 | 0.080 | 6 | 29621889 | intron variant | C/G | snv | 0.31 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 8152405 | missense variant | A/G | snv | 0.38 | 0.17 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
5 | 0.827 | 0.080 | 7 | 137008914 | intron variant | T/A | snv | 0.55 | 0.020 | 1.000 | 2 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 117244053 | synonymous variant | T/A;C;G | snv | 4.0E-06; 7.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
2 | 1.000 | 0.080 | 4 | 99144933 | intron variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 5 | 1443084 | missense variant | G/A;C | snv | 5.6E-02; 6.8E-05 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 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 | |||||
|
2 | 0.925 | 0.080 | 7 | 70783483 | non coding transcript exon variant | A/G | snv | 0.33 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 99126778 | intron variant | G/A | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 5 | 161471322 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 113985959 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 |