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 | 9 | 133424254 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | ||||
|
9 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 11 | 119278220 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.120 | 11 | 119278211 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
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 | ||||
|
2 | 5 | 150061765 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 5 | 150073480 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 1990 | 1990 | |||||||
|
2 | 5 | 150073481 | stop gained | A/G;T | snv | 0.700 | 1.000 | 1 | 1990 | 1990 | |||||||
|
2 | 5 | 150054083 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1990 | 1990 | |||||||
|
2 | 5 | 150054082 | missense variant | T/A;C | snv | 0.700 | 1.000 | 1 | 1990 | 1990 | |||||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
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 | |||||
|
6 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 3 | 128485850 | missense variant | G/A;C | snv | 4.0E-06; 5.0E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
19 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |