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 | 0.925 | 0.120 | 4 | 1801930 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 1806164 | missense variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 1799488 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1801886 | missense variant | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 1803785 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1804396 | missense variant | T/A;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 1801518 | synonymous variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1801896 | synonymous variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1803731 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1803744 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.800 | 0.962 | 26 | 1996 | 2020 | ||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.780 | 1.000 | 8 | 1995 | 2020 | |||||
|
5 | 0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.070 | 1.000 | 7 | 1998 | 2018 | |||
|
2 | 0.925 | 0.120 | 4 | 1805636 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.730 | 1.000 | 3 | 1998 | 2017 | |||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.720 | 1.000 | 2 | 2008 | 2018 | |||||
|
4 | 0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.120 | 1 | 62485187 | 3 prime UTR variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.120 | 1 | 230101356 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 4 | 1801928 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 |