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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 2 | 85309292 | missense variant | G/A | snv | 4.2E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 3 | 15175196 | non coding transcript exon variant | A/G;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.200 | 14 | 64279461 | intron variant | G/A;T | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.200 | 14 | 90397013 | intron variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 15 | 67177230 | intron variant | A/G | snv | 0.54 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 19 | 41354682 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
22 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 121339035 | missense variant | C/G;T | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 218879152 | upstream gene variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
13 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 7 | 112519123 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 116109640 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 15 | 68789051 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 2 | 47176459 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 1 | 40307477 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |