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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.060 | 0.833 | 6 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2017 | |||||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.320 | 6 | 41161457 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.120 | 6 | 41161367 | missense variant | G/A;C;T | snv | 1.9E-04; 1.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 41158917 | missense variant | A/G | snv | 1.8E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.200 | 6 | 41161515 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.240 | 6 | 32461942 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.040 | 1.000 | 4 | 2010 | 2017 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||
|
6 | 0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 7 | 56104288 | missense variant | T/C | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 7 | 12148903 | intergenic variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 7484595 | intron variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 128842895 | missense variant | G/A | snv | 3.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.120 | 7 | 56015139 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 12243703 | downstream gene variant | G/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 7 | 56019715 | missense variant | C/T | snv | 2.2E-04; 4.0E-06 | 1.9E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 8 | 11765703 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 8 | 125070323 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.200 | 8 | 33431749 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 21763735 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 8 | 104244975 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.160 | 8 | 104244917 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |