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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.900 | 0.852 | 27 | 2009 | 2020 | ||||
|
7 | 0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 | 0.900 | 0.947 | 19 | 2007 | 2019 | ||||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.090 | 0.889 | 9 | 2002 | 2019 | |||||
|
11 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 0.080 | 1.000 | 8 | 2007 | 2018 | ||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.860 | 1.000 | 8 | 2006 | 2018 | ||||
|
3 | 0.882 | 0.120 | 10 | 122454839 | stop gained | C/A;T | snv | 4.0E-06; 0.13 | 0.060 | 0.833 | 6 | 2012 | 2016 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.060 | 0.667 | 6 | 2008 | 2018 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.060 | 0.833 | 6 | 2009 | 2019 | |||||
|
2 | 0.925 | 0.160 | 19 | 6713251 | missense variant | G/A;C | snv | 0.14; 4.0E-06 | 0.050 | 0.800 | 5 | 2010 | 2015 | ||||
|
8 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 0.830 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.882 | 0.200 | 6 | 43772941 | intron variant | T/A;C | snv | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 196912470 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.160 | 1 | 196731921 | intron variant | G/A;C;T | snv | 0.810 | 1.000 | 4 | 2005 | 2013 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 0.250 | 4 | 2005 | 2009 | ||||
|
2 | 0.925 | 0.160 | 1 | 196677131 | non coding transcript exon variant | A/G;T | snv | 0.710 | 1.000 | 4 | 2008 | 2013 | |||||
|
10 | 0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv | 0.040 | 1.000 | 4 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 196707805 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||
|
5 | 0.827 | 0.200 | 11 | 119339574 | missense variant | G/C | snv | 0.030 | 1.000 | 3 | 2005 | 2018 | |||||
|
3 | 0.882 | 0.040 | 6 | 116065971 | intergenic variant | C/A;G;T | snv | 0.820 | 0.667 | 3 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 0.700 | 1.000 | 3 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 122475839 | intron variant | G/C;T | snv | 0.710 | 1.000 | 3 | 2010 | 2013 | |||||
|
7 | 0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv | 0.820 | 1.000 | 3 | 2013 | 2019 | |||||
|
3 | 0.882 | 0.200 | 6 | 31943672 | missense variant | A/C | snv | 4.1E-06 | 0.030 | 1.000 | 3 | 2006 | 2009 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 0.667 | 3 | 2004 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196610909 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 |