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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.090 | 1.000 | 9 | 2013 | 2019 | |||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2016 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.050 | 1.000 | 5 | 2007 | 2013 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.040 | 1.000 | 4 | 2012 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.040 | 1.000 | 4 | 2012 | 2018 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.040 | 1.000 | 4 | 2012 | 2018 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.040 | 1.000 | 4 | 2010 | 2015 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2011 | |||
|
13 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 0.030 | 1.000 | 3 | 2011 | 2016 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.030 | 1.000 | 3 | 2016 | 2018 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
10 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.020 | 1.000 | 2 | 2005 | 2014 | |||
|
6 | 0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2001 | 2011 | ||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
10 | 0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 | 0.020 | 1.000 | 2 | 2001 | 2004 | |||
|
13 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2009 |