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 | 3 | 100757869 | intron variant | C/T | snv | 4.3E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 2 | 102181785 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 102265892 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 2 | 102319699 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 102350446 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 2 | 102351825 | synonymous variant | T/C | snv | 0.34 | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.160 | 19 | 10274864 | missense variant | A/G;T | snv | 4.0E-06; 2.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 102777733 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 14 | 105694756 | intergenic variant | AAGA/- | delins | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.120 | 7 | 106018005 | missense variant | G/A | snv | 0.19 | 0.21 | 0.740 | 1.000 | 5 | 2014 | 2019 | |||
|
5 | 0.851 | 0.280 | 6 | 106219660 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 10642486 | intron variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 106484720 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 107977536 | intergenic variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 12 | 109814742 | missense variant | G/A;C | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 5 | 110823145 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 110885330 | synonymous variant | G/A | snv | 3.7E-02 | 6.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 5 | 111134439 | downstream gene variant | C/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 16 | 11121567 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 16 | 11125184 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 |