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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 16 | 57358821 | missense variant | A/C;T | snv | 0.92 | 0.94 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 1 | 206842612 | missense variant | T/C;G | snv | 0.71; 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.160 | 12 | 6800276 | intron variant | T/C | snv | 0.59 | 0.61 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 11 | 5697287 | missense variant | G/A | snv | 0.52 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
4 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
14 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 11 | 123057914 | synonymous variant | A/C;G | snv | 4.1E-06; 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
1 | 3 | 39332411 | missense variant | C/A;G;T | snv | 4.0E-06; 0.21; 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
26 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.020 | 0.500 | 2 | 2007 | 2010 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.200 | 3 | 48467567 | synonymous variant | G/A | snv | 9.4E-03 | 4.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 3 | 46373570 | missense variant | G/A | snv | 4.9E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
9 | 0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 |