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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 22 | 50721469 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.960 | 25 | 1997 | 2019 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.900 | 20 | 2006 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 1.000 | 10 | 2011 | 2018 | |||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.070 | 0.857 | 7 | 2007 | 2017 | |||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.050 | 0.800 | 5 | 2011 | 2019 | |||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.720 | 0.667 | 3 | 2014 | 2017 | ||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2020 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.030 | 1.000 | 3 | 2004 | 2008 | |||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
2 | 1.000 | 0.040 | 8 | 31749079 | intron variant | C/T | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 1998 | 2006 | |||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.020 | 0.500 | 2 | 1998 | 2000 | |||
|
6 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
2 | 1.000 | 0.040 | 8 | 31637858 | upstream gene variant | G/A | snv | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.040 | 18 | 55083238 | intergenic variant | A/G | snv | 0.39 | 0.710 | 1.000 | 2 | 2012 | 2014 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
2 | 1 | 29958713 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 238275940 | intron variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 |