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 | 16 | 75398788 | intron variant | -/A;C | ins | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 147474132 | intergenic variant | -/T | delins | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 7 | 106771412 | upstream gene variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 11078623 | intron variant | G/- | delins | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 89995033 | intron variant | T/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 33247916 | upstream gene variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 9 | 22072302 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2001 | 2007 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 0.750 | 4 | 2003 | 2007 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2003 | |||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2004 | 2012 | |||
|
14 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.020 | 0.500 | 2 | 2012 | 2014 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.020 | 1.000 | 2 | 2004 | 2015 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2001 | 2007 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.020 | 0.500 | 2 | 2001 | 2004 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.160 | 12 | 57140687 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 |