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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 14 | 91887253 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2002 | 2010 | |||||
|
3 | 0.882 | 0.120 | 14 | 91887283 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2006 | 2010 | |||||
|
3 | 0.882 | 0.120 | 14 | 91870336 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2006 | 2010 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 7 | 74046755 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.851 | 0.120 | X | 154432444 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.925 | 0.120 | 9 | 134798410 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 247444692 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 17 | 81935111 | missense variant | G/A;C | snv | 5.7E-05; 8.1E-06 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 81934670 | missense variant | C/A;T | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 17 | 81934652 | splice donor variant | C/G | snv | 2.9E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.080 | 17 | 81934326 | missense variant | C/G;T | snv | 7.7E-05 | 0.700 | 1.000 | 4 | 2009 | 2015 | ||||
|
9 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.120 | 14 | 91883017 | missense variant | C/T | snv | 2.6E-04 | 2.5E-04 | 0.020 | 1.000 | 2 | 2006 | 2010 | |||
|
2 | 0.925 | 0.080 | 14 | 91891236 | missense variant | C/T | snv | 2.8E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 19 | 12940432 | missense variant | C/T | snv | 1.2E-03 | 3.4E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 |