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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 18 | 2946293 | non coding transcript exon variant | C/T | snv | 0.96 | 0.92 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 0.840 | 1.000 | 3 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 39674647 | synonymous variant | A/G | snv | 0.67 | 0.64 | 0.710 | 1.000 | 1 | 2010 | 2011 | |||
|
3 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 225786829 | intron variant | A/G;T | snv | 0.63 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.827 | 0.280 | 17 | 39657827 | missense variant | G/A | snv | 0.62 | 0.52 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.710 | 1.000 | 1 | 2011 | 2013 | |||
|
1 | 0.925 | 0.120 | 17 | 39966427 | missense variant | G/A;C;T | snv | 4.1E-04; 4.2E-06; 0.52 | 0.820 | 0.750 | 1 | 2011 | 2015 | ||||
|
2 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.810 | 1.000 | 4 | 2010 | 2014 | |||
|
4 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.710 | 1.000 | 1 | 2010 | 2011 | |||
|
4 | 0.882 | 0.160 | 17 | 39905964 | missense variant | C/T | snv | 0.43 | 0.39 | 0.800 | 1.000 | 1 | 2011 | 2018 | |||
|
6 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.080 | 17 | 39766006 | synonymous variant | G/A | snv | 0.41 | 0.36 | 0.810 | 1.000 | 3 | 2010 | 2019 | |||
|
3 | 0.925 | 0.160 | 17 | 39868373 | synonymous variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.820 | 1.000 | 2 | 2011 | 2018 | |||
|
7 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.860 | 0.900 | 4 | 2008 | 2018 | |||
|
1 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 1 | 2010 | 2020 | |||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.851 | 0.240 | 6 | 32187804 | intron variant | A/G | snv | 0.24 | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 6 | 31154723 | missense variant | G/A | snv | 0.15 | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |