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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.160 | 10 | 6056861 | intron variant | T/C | snv | 0.48 | 0.810 | 1.000 | 5 | 2010 | 2016 | ||||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.810 | 1.000 | 4 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.160 | 22 | 37185445 | missense variant | C/A;G | snv | 0.43 | 0.800 | 1.000 | 4 | 2010 | 2016 | ||||
|
3 | 0.925 | 0.040 | 14 | 24632954 | missense variant | C/T | snv | 0.76 | 0.72 | 0.810 | 1.000 | 4 | 2010 | 2018 | |||
|
7 | 0.851 | 0.160 | 11 | 89277878 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.820 | 1.000 | 3 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 95587644 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2020 | |||
|
1 | 1.000 | 0.040 | 6 | 29969350 | downstream gene variant | A/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 188371466 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||
|
17 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
4 | 0.925 | 0.040 | 12 | 56023144 | intron variant | A/C;G | snv | 0.810 | 1.000 | 2 | 2012 | 2015 | |||||
|
3 | 0.925 | 0.040 | 16 | 53605526 | missense variant | C/T | snv | 7.3E-02 | 4.7E-02 | 0.820 | 1.000 | 2 | 2013 | 2015 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
1 | 1.000 | 0.040 | 1 | 8466082 | intron variant | G/A | snv | 0.68 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.120 | 6 | 32610275 | intergenic variant | G/A | snv | 0.43 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 0.925 | 0.040 | 3 | 119569567 | intergenic variant | A/C;T | snv | 0.810 | 1.000 | 2 | 2012 | 2015 | |||||
|
4 | 0.882 | 0.080 | 11 | 118827828 | intergenic variant | G/A | snv | 0.79 | 0.820 | 1.000 | 2 | 2013 | 2017 | ||||
|
3 | 0.882 | 0.160 | 6 | 167092303 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
3 | 0.925 | 0.080 | 6 | 32623514 | upstream gene variant | T/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 |