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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.942 | 52 | 1996 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.857 | 14 | 1998 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.917 | 12 | 2000 | 2019 | |||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.760 | 0.857 | 7 | 2008 | 2019 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.070 | 0.857 | 7 | 2002 | 2016 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.040 | 1.000 | 4 | 2007 | 2009 | |||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2006 | 2014 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.030 | 0.667 | 3 | 2011 | 2020 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.030 | 0.667 | 3 | 1998 | 2019 | |||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.020 | 1.000 | 2 | 2007 | 2017 | |||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1 | 56163763 | intron variant | A/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 1996 | 1996 | ||||
|
6 | 1.000 | 0.040 | 1 | 62584148 | 3 prime UTR variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 6616425 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 1 | 186880054 | intron variant | A/G | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 42041342 | non coding transcript exon variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 0.925 | 0.120 | 1 | 94542362 | upstream gene variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.776 | 0.120 | 1 | 55057454 | missense variant | G/A;C;T | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1 | 55040006 | stop gained | G/A;T | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 |