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 | 0.080 | 2 | 118967884 | intron variant | A/G | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 118973892 | intron variant | T/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 118985008 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 2 | 118971300 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 2 | 113131542 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 118983428 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 230168800 | non coding transcript exon variant | C/T | snv | 0.57 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 2 | 230212395 | missense variant | C/T | snv | 0.11 | 9.1E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
35 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
18 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
66 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.120 | 3 | 50610457 | 5 prime UTR variant | T/G | snv | 9.6E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
41 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 3 | 52232366 | intron variant | A/C | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 3 | 52230891 | synonymous variant | T/C | snv | 0.17 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 187247480 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.200 | 3 | 38137763 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 3 | 50611939 | 5 prime UTR variant | C/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 38142879 | 3 prime UTR variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
97 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.080 | 1.000 | 8 | 2010 | 2019 | |||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.040 | 0.750 | 4 | 2013 | 2019 | |||
|
20 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.040 | 1.000 | 4 | 2010 | 2016 |