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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
2 | 1.000 | 0.080 | 4 | 55112043 | intron variant | C/T | snv | 0.24 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
6 | 0.882 | 0.160 | 15 | 57960908 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.080 | 8 | 11578007 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.200 | 2 | 201288355 | 3 prime UTR variant | T/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.080 | 19 | 18692362 | intron variant | T/G | snv | 0.67 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 23193972 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 2 | 21027351 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 150929228 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 12 | 114235918 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 150964998 | intergenic variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 7377100 | intergenic variant | G/A | snv | 0.16 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | X | 140863896 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 117616658 | intron variant | G/A | snv | 0.10 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 13 | 28326373 | intron variant | C/T | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 13 | 28358693 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 5 | 150141675 | intron variant | G/A | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 10210563 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 16 | 86363229 | TF binding site variant | G/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 19 | 18693485 | intron variant | G/- | del | 9.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 4 | 54226459 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 |