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 | 0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 14 | 70423423 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 17 | 3000998 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.851 | 0.120 | 16 | 68834619 | 3 prime UTR variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 22 | 35835310 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 7 | 70935714 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | 16 | 68758190 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 3 | 46825376 | downstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
7 | 0.790 | 0.160 | 6 | 32129371 | missense variant | G/A | snv | 2.7E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 4 | 68537650 | missense variant | G/C;T | snv | 1.5E-05 | 2.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 22 | 27918624 | intron variant | G/A | snv | 4.9E-03 | 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 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 16 | 67082698 | intron variant | C/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.120 | 4 | 79376097 | intergenic variant | T/C | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 4 | 185141891 | upstream gene variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 5 | 149823222 | intron variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 8 | 23608232 | intergenic variant | G/A | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |