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 | 0.040 | 11 | 57599749 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 33199222 | intron variant | A/G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.040 | 4 | 15984309 | missense variant | T/A;C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 19 | 6710937 | non coding transcript exon variant | G/A | snv | 0.17 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | X | 47624401 | synonymous variant | G/A | snv | 0.22 | 0.23 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 14 | 68526257 | intron variant | G/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | 16 | 4510300 | 3 prime UTR variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | X | 97043550 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 6 | 31354142 | 3 prime UTR variant | G/T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 45340221 | splice donor variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
12 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 6 | 116125413 | missense variant | A/C;G | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 202954050 | intron variant | T/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 11 | 102599525 | intron variant | A/G | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 11 | 131359434 | intergenic variant | T/C | snv | 8.7E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | Y | 3649707 | intergenic variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 133746439 | 5 prime UTR variant | A/G | snv | 0.60 | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 |