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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 15 | 101277522 | upstream gene variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 2 | 102162001 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 2 | 102355405 | intron variant | G/T | snv | 0.77 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.120 | 2 | 102410643 | upstream gene variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 19 | 10305768 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 110490595 | intron variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 110523120 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 5 | 110700055 | intron variant | A/G | snv | 9.3E-02 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.882 | 0.160 | 5 | 110713253 | intron variant | G/A | snv | 9.3E-02 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 5 | 111072304 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.200 | 5 | 111073450 | 5 prime UTR variant | C/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 2 | 111246290 | non coding transcript exon variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 11135732 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.200 | 11 | 112143413 | 3 prime UTR variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 11 | 112155193 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 11 | 112160357 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.120 | 3 | 112657461 | intergenic variant | T/C | snv | 0.15 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 112918756 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 1 | 12008884 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 4 | 122089432 | upstream gene variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 4 | 122335010 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 4 | 122576542 | intergenic variant | G/A;T | snv | 0.710 | 1.000 | 2 | 2015 | 2018 |