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 | 2 | 201284885 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 3 | 39100811 | missense variant | A/C;G | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 4 | 102567083 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 4 | 73741652 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 38815492 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 9 | 117713057 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 11 | 65661805 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 11 | 65661817 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.900 | 0.933 | 15 | 1999 | 2019 | ||||
|
5 | 0.827 | 0.240 | 12 | 6333823 | missense variant | G/A;T | snv | 0.840 | 1.000 | 12 | 1999 | 2019 | |||||
|
5 | 0.827 | 0.240 | 12 | 6334099 | missense variant | C/T | snv | 0.850 | 1.000 | 9 | 1999 | 2014 | |||||
|
2 | 0.925 | 0.200 | 12 | 6333490 | missense variant | A/G | snv | 0.810 | 1.000 | 6 | 1999 | 2008 | |||||
|
1 | 1.000 | 0.120 | 12 | 6333489 | missense variant | C/T | snv | 0.810 | 1.000 | 6 | 1999 | 2010 | |||||
|
2 | 0.925 | 0.120 | 12 | 6333764 | missense variant | A/C;G;T | snv | 0.810 | 1.000 | 6 | 1999 | 2014 | |||||
|
6 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 0.700 | 1.000 | 6 | 2006 | 2014 | ||||
|
4 | 0.851 | 0.320 | 12 | 6333835 | missense variant | G/A;C | snv | 5.7E-03 | 0.710 | 1.000 | 6 | 1999 | 2005 | ||||
|
1 | 1.000 | 0.120 | 12 | 6334109 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | 12 | 6333817 | missense variant | C/A;T | snv | 0.800 | 1.000 | 5 | 1999 | 2004 | |||||
|
4 | 0.882 | 0.240 | 12 | 6334108 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 1999 | 2004 | ||||
|
1 | 1.000 | 0.120 | 12 | 6334100 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | 12 | 6334131 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | 12 | 6333845 | stop lost | A/G | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
3 | 0.882 | 0.160 | 12 | 6333790 | missense variant | G/A;T | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.120 | 12 | 6333418 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 12 | 6333844 | splice donor variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |