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 | 52065011 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52024589 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 51659468 | missense variant | A/G | snv | 2.8E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51753203 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 51748375 | missense variant | T/C | snv | 1.4E-04 | 1.3E-04 | 0.700 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 51619437 | missense variant | G/A | snv | 7.2E-05 | 7.0E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 51934247 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51659621 | missense variant | T/A | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 52022839 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51753266 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51791283 | missense variant | A/C | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51830882 | missense variant | C/A | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
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 | 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 | 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 | 52026048 | frameshift variant | GG/C | delins | 0.700 | 1.000 | 9 | 2002 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 51959882 | frameshift variant | -/T | delins | 9.8E-05 | 0.700 | 1.000 | 9 | 2002 | 2016 | ||||
|
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 |