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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.900 | 1.000 | 19 | 2004 | 2019 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.050 | 1.000 | 5 | 2012 | 2018 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.040 | 1.000 | 4 | 2001 | 2008 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.333 | 3 | 1999 | 2003 | |||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 4 | 99124423 | stop gained | T/A;C | snv | 0.78 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
9 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 0.020 | 1.000 | 2 | 2005 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 117244053 | synonymous variant | T/A;C;G | snv | 4.0E-06; 7.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
3 | 0.882 | 0.080 | 5 | 1443084 | missense variant | G/A;C | snv | 5.6E-02; 6.8E-05 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
5 | 0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
5 | 0.827 | 0.160 | 4 | 155208030 | non coding transcript exon variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||
|
2 | 0.925 | 0.080 | 4 | 46369816 | intron variant | G/A;T | snv | 0.020 | 0.500 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 51821024 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 178548873 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | X | 154496001 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 3 | 14459666 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |