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 | 52999470 | intron variant | G/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.080 | 3 | 105576617 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.080 | 9 | 72930966 | synonymous variant | G/A | snv | 0.48 | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.080 | 7 | 151078923 | missense variant | C/T | snv | 4.6E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 4 | 26489811 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.790 | 0.080 | 2 | 47403411 | intron variant | C/A;G;T | snv | 1.9E-05; 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 4 | 26489030 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 53019949 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53020735 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.080 | 11 | 125865825 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.080 | 17 | 65545379 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 18 | 53012182 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 18 | 53009439 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 53003267 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53021270 | intron variant | C/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 53007301 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 52993157 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 18 | 52999187 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.080 | 17 | 78855710 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 2 | 169637315 | missense variant | A/G | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
14 | 0.752 | 0.080 | 10 | 94051682 | intron variant | C/T | snv | 0.39 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 17 | 38914448 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 4 | 26484572 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 52995196 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 |