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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
4 | 0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 9 | 132937614 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 5 | 142614908 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 5 | 149823222 | intron variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 3 | 150750021 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 21 | 15148511 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 6 | 152005062 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 6 | 167818409 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 4 | 174925275 | intron variant | C/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 4 | 185141891 | upstream gene variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 1 | 214510163 | intron variant | A/G | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 2 | 217029040 | intergenic variant | G/A | snv | 0.18 | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 8 | 23608232 | intergenic variant | G/A | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |