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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.790 | 0.320 | 6 | 29388554 | intron variant | A/G | snv | 5.8E-02 | 0.820 | 1.000 | 4 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 16 | 19680261 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.925 | 0.080 | 18 | 22074176 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.925 | 0.080 | 3 | 168007561 | downstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 184065565 | downstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 3 | 70868488 | intergenic variant | A/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 15 | 57975219 | intron variant | ACAT/- | delins | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 9 | 97548219 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.882 | 0.160 | 16 | 86369512 | intergenic variant | C/T | snv | 0.64 | 0.820 | 1.000 | 3 | 2012 | 2017 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 9 | 21978980 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 13 | 27976441 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
26 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 51339044 | intergenic variant | C/T | snv | 0.64 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.120 | 3 | 9750336 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 5 | 662977 | 3 prime UTR variant | C/T | snv | 2.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |