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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 1.000 | 2 | 2000 | 2015 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 17 | 43953041 | 3 prime UTR variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.120 | 4 | 45162620 | intergenic variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2006 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 46408231 | intron variant | C/T | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 12 | 53334171 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.080 | 16 | 53778702 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.060 | 0.833 | 6 | 2012 | 2019 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 55599178 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2009 | |||
|
1 | 1.000 | 0.080 | 4 | 55627773 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 55627872 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 55632082 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 |