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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 22 | 41885425 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 9867065 | 3 prime UTR variant | G/C | snv | 0.19; 5.6E-05 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 125594988 | 5 prime UTR variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.320 | 9 | 2691186 | regulatory region variant | A/G | snv | 0.56 | 0.030 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 7817996 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 113089594 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 92947847 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 11 | 47253513 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 7659861 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 12 | 110895818 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 12 | 114375303 | intron variant | T/C | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 116896183 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 1 | 190092815 | downstream gene variant | A/T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 202956690 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
6 | 0.827 | 0.400 | 11 | 47259211 | 5 prime UTR variant | G/A | snv | 0.14 | 0.12 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
2 | 0.925 | 0.080 | 12 | 4265207 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 12 | 110900990 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 |