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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.040 | 1 | 22164231 | intergenic variant | C/A | snv | 0.22 | 0.850 | 1.000 | 7 | 2012 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.060 | 0.833 | 6 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 22159378 | downstream gene variant | T/G | snv | 0.32 | 0.750 | 1.000 | 6 | 2010 | 2020 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.060 | 0.833 | 6 | 2007 | 2016 | |||||
|
2 | 1.000 | 0.040 | 12 | 95318100 | intron variant | A/C | snv | 0.37 | 0.850 | 1.000 | 5 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.080 | 7 | 25862019 | intergenic variant | G/A | snv | 0.63 | 0.820 | 1.000 | 5 | 2011 | 2017 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.040 | 0.750 | 4 | 2008 | 2020 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2009 | 2017 | |||||
|
4 | 1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.200 | 2 | 112774659 | 3 prime UTR variant | T/C | snv | 0.32 | 0.030 | 1.000 | 3 | 2013 | 2020 | ||||
|
1 | 1.000 | 0.040 | 9 | 22169701 | regulatory region variant | T/C | snv | 0.44 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 1.000 | 0.040 | 1 | 22123994 | intron variant | C/T | snv | 0.13 | 0.820 | 1.000 | 3 | 2013 | 2020 | ||||
|
9 | 0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 | 0.030 | 1.000 | 3 | 2013 | 2020 | ||||
|
2 | 0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 67637543 | intron variant | C/T | snv | 0.71 | 0.820 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 22115106 | intron variant | C/A | snv | 0.15 | 0.820 | 1.000 | 2 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 11581409 | intron variant | T/A;G | snv | 0.710 | 0.500 | 2 | 2017 | 2019 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.020 | 0.500 | 2 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 112771606 | downstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 19803537 | non coding transcript exon variant | C/T | snv | 0.47 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2013 | 2020 | |||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.020 | 1.000 | 2 | 2016 | 2019 |