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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.160 | 10 | 87933107 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.160 | 10 | 87864168 | 5 prime UTR variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 11 | 119278220 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 2 | 111123957 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 1.000 | 0.160 | 10 | 87933035 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 3 | 128485850 | missense variant | G/A;C | snv | 4.0E-06; 5.0E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.160 | 10 | 87864242 | 5 prime UTR variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 2 | 37222420 | missense variant | T/C;G | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 11 | 119278211 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
6 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.851 | 0.200 | 3 | 12618681 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.790 | 0.320 | 4 | 153706503 | downstream gene variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
17 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |