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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 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 | ||||
|
3 | 0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | ||||
|
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 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
2 | 1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.200 | 3 | 12618681 | missense variant | C/A;T | snv | 4.0E-06 | 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 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.320 | 4 | 153706503 | downstream gene variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 |