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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 10 | 104265109 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 68788438 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.080 | 10 | 104278136 | intron variant | T/C | snv | 0.45 | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 16 | 68739957 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 16 | 68740009 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 16 | 68730609 | intergenic variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.200 | 7 | 92241059 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 19 | 55000864 | missense variant | C/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 1.000 | 0.080 | 10 | 132645884 | missense variant | A/G | snv | 0.22 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 17 | 50353660 | missense variant | G/A | snv | 9.3E-03 | 1.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 |