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 | 7 | 100629298 | missense variant | T/C | snv | 8.4E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.200 | 12 | 101753399 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 104782419 | 3 prime UTR variant | C/T | snv | 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.120 | 11 | 112152125 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 9 | 117713471 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 1997 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.160 | 8 | 127736252 | synonymous variant | C/T | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.120 | 19 | 12885001 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
15 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | MT | 15257 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 4 | 153703650 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |