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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 2 | 118939624 | upstream gene variant | C/A | snv | 6.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 184038034 | missense variant | G/A;C;T | snv | 0.66; 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.040 | 5 | 63965502 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 5 | 26866262 | intergenic variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 18 | 28070318 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 34864921 | downstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 8 | 20192013 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 15 | 50660473 | intron variant | T/C | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 18 | 28171702 | intron variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 184100530 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 4574022 | splice region variant | A/C | snv | 0.11 | 8.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 21 | 33029069 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 101885466 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 1 | 162367213 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 13 | 83880256 | missense variant | T/A | snv | 1.3E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.925 | 0.040 | 11 | 27654165 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 101869470 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 222801584 | intergenic variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.040 | 5 | 63960902 | missense variant | C/A;T | snv | 8.0E-06; 1.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |