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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 6 | 51883179 | missense variant | A/C;G | snv | 5.0E-04; 2.4E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52024819 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51903686 | missense variant | T/A | snv | 1.6E-04 | 1.0E-04 | 0.800 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 52050167 | missense variant | T/C;G | snv | 3.6E-05; 1.2E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52062660 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 52010310 | missense variant | T/C | snv | 3.5E-05 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52025353 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51744505 | missense variant | A/G | snv | 3.3E-04 | 2.6E-04 | 0.800 | 1.000 | 9 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 52046182 | missense variant | G/A | snv | 5.2E-05 | 4.2E-05 | 0.800 | 1.000 | 9 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 51748470 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52082399 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52071006 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 52084884 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51909295 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51934206 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52069478 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52058426 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52069471 | missense variant | T/C | snv | 0.700 | 1.000 | 9 | 2002 | 2015 | |||||
|
2 | 0.925 | 0.120 | 6 | 52024940 | missense variant | G/A | snv | 1.5E-04 | 6.3E-05 | 0.800 | 1.000 | 8 | 1975 | 2016 | |||
|
1 | 1.000 | 0.120 | 6 | 51748086 | missense variant | A/G | snv | 5.2E-05 | 4.9E-05 | 0.800 | 1.000 | 8 | 2003 | 2014 | |||
|
1 | 1.000 | 0.120 | 6 | 51659682 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 | 0.800 | 1.000 | 6 | 2003 | 2016 | |||
|
1 | 1.000 | 0.120 | 6 | 51747897 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 52046089 | missense variant | A/G | snv | 8.0E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2014 | 2018 | |||
|
1 | 1.000 | 0.120 | 6 | 51847814 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2004 | 2010 | |||
|
1 | 1.000 | 0.120 | 6 | 52050172 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2016 |