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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 56201354 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 3 | 106570103 | intergenic variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 17 | 56115162 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 8 | 27578983 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 118890460 | intron variant | A/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.909 | 11 | 2006 | 2017 | |||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.050 | 1.000 | 5 | 2008 | 2016 | ||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.040 | 0.750 | 4 | 2011 | 2016 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.030 | 0.667 | 3 | 2007 | 2009 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 36041718 | intron variant | A/G | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 32153944 | missense variant | G/A | snv | 8.6E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 7 | 136946956 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 153135918 | upstream gene variant | C/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 6 | 88163211 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 6 | 88147601 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 6 | 88152840 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 6 | 88154344 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 |