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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 2 | 100190478 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 100775337 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 100796873 | intergenic variant | C/G | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 100865980 | intergenic variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 100941963 | non coding transcript exon variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 3 | 102029794 | regulatory region variant | A/G | snv | 0.70 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
2 | 1.000 | 0.080 | 3 | 102036894 | TF binding site variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 14 | 102250845 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 1023552 | intergenic variant | A/G | snv | 0.15 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.280 | 5 | 102477801 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.280 | 4 | 102630446 | downstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 4 | 102657480 | intron variant | G/A | snv | 0.50 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 102757321 | intron variant | G/A | snv | 7.9E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 102797451 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.030 | 0.333 | 3 | 2003 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 10293054 | intron variant | T/C | snv | 0.32 | 0.830 | 1.000 | 4 | 2008 | 2011 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 5 | 103261019 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.730 | 1.000 | 4 | 2010 | 2019 | |||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.160 | 14 | 103686015 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2007 | 2007 |