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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 9 | 25659639 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 8 | 62520233 | intron variant | C/T | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 20 | 25226018 | 3 prime UTR variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 15 | 60776148 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 10 | 8074635 | 3 prime UTR variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 6 | 52233314 | downstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 23530907 | intergenic variant | T/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 15 | 41468419 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 12 | 49951888 | intron variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 9001956 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 4 | 38774699 | missense variant | C/T | snv | 6.5E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 5 | 111076887 | 3 prime UTR variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.120 | 16 | 11183501 | downstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 19 | 10255220 | non coding transcript exon variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 19 | 33227147 | upstream gene variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 28391534 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 32834029 | intron variant | C/T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 6 | 52222236 | intergenic variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |